(used for mutation description)
(last modified April 30, 2014)
This file was created to facilitate the description of sequence variants in the RAG1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000011.9, covering RAG1 transcript NM_000448.2.
(upstream sequence)
g.1004
agag c.-121
. . . . . . g.1064
ggcaaggagagagcagagaacacactttgccttctctttggtattgagtaatatcaacca c.-61
. . . . . | 02 . g.6292
aattgcagacatctcaacactttggccaggcagcctgctgagcaag | gtacctcagccagc c.-1
. . . . . . g.6352
ATGGCAGCCTCTTTCCCACCCACCTTGGGACTCAGTTCTGCCCCAGATGAAATTCAGCAC c.60
M A A S F P P T L G L S S A P D E I Q H p.20
. . . . . . g.6412
CCACATATTAAATTTTCAGAATGGAAATTTAAGCTGTTCCGGGTGAGATCCTTTGAAAAG c.120
P H I K F S E W K F K L F R V R S F E K p.40
. . . . . . g.6472
ACACCTGAAGAAGCTCAAAAGGAAAAGAAGGATTCCTTTGAGGGGAAACCCTCTCTGGAG c.180
T P E E A Q K E K K D S F E G K P S L E p.60
. . . . . . g.6532
CAATCTCCAGCAGTCCTGGACAAGGCTGATGGTCAGAAGCCAGTCCCAACTCAGCCATTG c.240
Q S P A V L D K A D G Q K P V P T Q P L p.80
. . . . . . g.6592
TTAAAAGCCCACCCTAAGTTTTCAAAGAAATTTCACGACAACGAGAAAGCAAGAGGCAAA c.300
L K A H P K F S K K F H D N E K A R G K p.100
. . . . . . g.6652
GCGATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGGGAATTCTTTTAGAGCT c.360
A I H Q A N L R H L C R I C G N S F R A p.120
. . . . . . g.6712
GATGAGCACAACAGGAGATATCCAGTCCATGGTCCTGTGGATGGTAAAACCCTAGGCCTT c.420
D E H N R R Y P V H G P V D G K T L G L p.140
. . . . . . g.6772
TTACGAAAGAAGGAAAAGAGAGCTACTTCCTGGCCGGACCTCATTGCCAAGGTTTTCCGG c.480
L R K K E K R A T S W P D L I A K V F R p.160
. . . . . . g.6832
ATCGATGTGAAGGCAGATGTTGACTCGATCCACCCCACTGAGTTCTGCCATAACTGCTGG c.540
I D V K A D V D S I H P T E F C H N C W p.180
. . . . . . g.6892
AGCATCATGCACAGGAAGTTTAGCAGTGCCCCATGTGAGGTTTACTTCCCGAGGAACGTG c.600
S I M H R K F S S A P C E V Y F P R N V p.200
. . . . . . g.6952
ACCATGGAGTGGCACCCCCACACACCATCCTGTGACATCTGCAACACTGCCCGTCGGGGA c.660
T M E W H P H T P S C D I C N T A R R G p.220
. . . . . . g.7012
CTCAAGAGGAAGAGTCTTCAGCCAAACTTGCAGCTCAGCAAAAAACTCAAAACTGTGCTT c.720
L K R K S L Q P N L Q L S K K L K T V L p.240
. . . . . . g.7072
GACCAAGCAAGACAAGCCCGTCAGCACAAGAGAAGAGCTCAGGCAAGGATCAGCAGCAAG c.780
D Q A R Q A R Q H K R R A Q A R I S S K p.260
. . . . . . g.7132
GATGTCATGAAGAAGATCGCCAACTGCAGTAAGATACATCTTAGTACCAAGCTCCTTGCA c.840
D V M K K I A N C S K I H L S T K L L A p.280
. . . . . . g.7192
GTGGACTTCCCAGAGCACTTTGTGAAATCCATCTCCTGCCAGATCTGTGAACACATTCTG c.900
V D F P E H F V K S I S C Q I C E H I L p.300
. . . . . . g.7252
GCTGACCCTGTGGAGACCAACTGTAAGCATGTCTTTTGCCGGGTCTGCATTCTCAGATGC c.960
A D P V E T N C K H V F C R V C I L R C p.320
. . . . . . g.7312
CTCAAAGTCATGGGCAGCTATTGTCCCTCTTGCCGATATCCATGCTTCCCTACTGACCTG c.1020
L K V M G S Y C P S C R Y P C F P T D L p.340
. . . . . . g.7372
GAGAGTCCAGTGAAGTCCTTTCTGAGCGTCTTGAATTCCCTGATGGTGAAATGTCCAGCA c.1080
E S P V K S F L S V L N S L M V K C P A p.360
. . . . . . g.7432
AAAGAGTGCAATGAGGAGGTCAGTTTGGAAAAATATAATCACCACATCTCAAGTCACAAG c.1140
K E C N E E V S L E K Y N H H I S S H K p.380
. . . . . . g.7492
GAATCAAAAGAGATTTTTGTGCACATTAATAAAGGGGGCCGGCCCCGCCAACATCTTCTG c.1200
E S K E I F V H I N K G G R P R Q H L L p.400
. . . . . . g.7552
TCGCTGACTCGGAGAGCTCAGAAGCACCGGCTGAGGGAGCTCAAGCTGCAAGTCAAAGCC c.1260
S L T R R A Q K H R L R E L K L Q V K A p.420
. . . . . . g.7612
TTTGCTGACAAAGAAGAAGGTGGAGATGTGAAGTCCGTGTGCATGACCTTGTTCCTGCTG c.1320
F A D K E E G G D V K S V C M T L F L L p.440
. . . . . . g.7672
GCTCTGAGGGCGAGGAATGAGCACAGGCAAGCTGATGAGCTGGAGGCCATCATGCAGGGA c.1380
A L R A R N E H R Q A D E L E A I M Q G p.460
. . . . . . g.7732
AAGGGCTCTGGCCTGCAGCCAGCTGTTTGCTTGGCCATCCGTGTCAACACCTTCCTCAGC c.1440
K G S G L Q P A V C L A I R V N T F L S p.480
. . . . . . g.7792
TGCAGTCAGTACCACAAGATGTACAGGACTGTGAAAGCCATCACAGGGAGACAGATTTTT c.1500
C S Q Y H K M Y R T V K A I T G R Q I F p.500
. . . . . . g.7852
CAGCCTTTGCATGCCCTTCGGAATGCTGAGAAGGTACTTCTGCCAGGCTACCACCACTTT c.1560
Q P L H A L R N A E K V L L P G Y H H F p.520
. . . . . . g.7912
GAGTGGCAGCCACCTCTGAAGAATGTGTCTTCCAGCACTGATGTTGGCATTATTGATGGG c.1620
E W Q P P L K N V S S S T D V G I I D G p.540
. . . . . . g.7972
CTGTCTGGACTATCATCCTCTGTGGATGATTACCCAGTGGACACCATTGCAAAGAGGTTC c.1680
L S G L S S S V D D Y P V D T I A K R F p.560
. . . . . . g.8032
CGCTATGATTCAGCTTTGGTGTCTGCTTTGATGGACATGGAAGAAGACATCTTGGAAGGC c.1740
R Y D S A L V S A L M D M E E D I L E G p.580
. . . . . . g.8092
ATGAGATCCCAAGACCTTGATGATTACCTGAATGGCCCCTTCACTGTGGTGGTGAAGGAG c.1800
M R S Q D L D D Y L N G P F T V V V K E p.600
. . . . . . g.8152
TCTTGTGATGGAATGGGAGACGTGAGTGAGAAGCATGGGAGTGGGCCTGTAGTTCCAGAA c.1860
S C D G M G D V S E K H G S G P V V P E p.620
. . . . . . g.8212
AAGGCAGTCCGTTTTTCATTCACAATCATGAAAATTACTATTGCCCACAGCTCTCAGAAT c.1920
K A V R F S F T I M K I T I A H S S Q N p.640
. . . . . . g.8272
GTGAAAGTATTTGAAGAAGCCAAACCTAACTCTGAACTGTGTTGCAAGCCATTGTGCCTT c.1980
V K V F E E A K P N S E L C C K P L C L p.660
. . . . . . g.8332
ATGCTGGCAGATGAGTCTGACCACGAGACGCTGACTGCCATCCTGAGTCCTCTCATTGCT c.2040
M L A D E S D H E T L T A I L S P L I A p.680
. . . . . . g.8392
GAGAGGGAGGCCATGAAGAGCAGTGAATTAATGCTTGAGCTGGGAGGCATTCTCCGGACT c.2100
E R E A M K S S E L M L E L G G I L R T p.700
. . . . . . g.8452
TTCAAGTTCATCTTCAGGGGCACCGGCTATGATGAAAAACTTGTGCGGGAAGTGGAAGGC c.2160
F K F I F R G T G Y D E K L V R E V E G p.720
. . . . . . g.8512
CTCGAGGCTTCTGGCTCAGTCTACATTTGTACTCTTTGTGATGCCACCCGTCTGGAAGCC c.2220
L E A S G S V Y I C T L C D A T R L E A p.740
. . . . . . g.8572
TCTCAAAATCTTGTCTTCCACTCTATAACCAGAAGCCATGCTGAGAACCTGGAACGTTAT c.2280
S Q N L V F H S I T R S H A E N L E R Y p.760
. . . . . . g.8632
GAGGTCTGGCGTTCCAACCCTTACCATGAGTCTGTGGAAGAACTGCGGGATCGGGTGAAA c.2340
E V W R S N P Y H E S V E E L R D R V K p.780
. . . . . . g.8692
GGGGTCTCAGCTAAACCTTTCATTGAGACAGTCCCTTCCATAGATGCACTCCACTGTGAC c.2400
G V S A K P F I E T V P S I D A L H C D p.800
. . . . . . g.8752
ATTGGCAATGCAGCTGAGTTCTACAAGATCTTCCAGCTAGAGATAGGGGAAGTGTATAAG c.2460
I G N A A E F Y K I F Q L E I G E V Y K p.820
. . . . . . g.8812
AATCCCAATGCTTCCAAAGAGGAAAGGAAAAGGTGGCAGGCCACACTGGACAAGCATCTC c.2520
N P N A S K E E R K R W Q A T L D K H L p.840
. . . . . . g.8872
CGGAAGAAGATGAACCTCAAACCAATCATGAGGATGAATGGCAACTTTGCCAGGAAGCTC c.2580
R K K M N L K P I M R M N G N F A R K L p.860
. . . . . . g.8932
ATGACCAAAGAGACTGTGGATGCAGTTTGTGAGTTAATTCCTTCCGAGGAGAGGCACGAG c.2640
M T K E T V D A V C E L I P S E E R H E p.880
. . . . . . g.8992
GCTCTGAGGGAGCTGATGGATCTTTACCTGAAGATGAAACCAGTATGGCGATCATCATGC c.2700
A L R E L M D L Y L K M K P V W R S S C p.900
. . . . . . g.9052
CCTGCTAAAGAGTGCCCAGAATCCCTCTGCCAGTACAGTTTCAATTCACAGCGTTTTGCT c.2760
P A K E C P E S L C Q Y S F N S Q R F A p.920
. . . . . . g.9112
GAGCTCCTTTCTACGAAGTTCAAGTATAGGTATGAGGGAAAAATCACCAATTATTTTCAC c.2820
E L L S T K F K Y R Y E G K I T N Y F H p.940
. . . . . . g.9172
AAAACCCTGGCCCATGTTCCTGAAATTATTGAGAGGGATGGCTCCATTGGGGCATGGGCA c.2880
K T L A H V P E I I E R D G S I G A W A p.960
. . . . . . g.9232
AGTGAGGGAAATGAGTCTGGTAACAAACTGTTTAGGCGCTTCCGGAAAATGAATGCCAGG c.2940
S E G N E S G N K L F R R F R K M N A R p.980
. . . . . . g.9292
CAGTCCAAATGCTATGAGATGGAAGATGTCCTGAAACACCACTGGTTGTACACCTCCAAA c.3000
Q S K C Y E M E D V L K H H W L Y T S K p.1000
. . . . . . g.9352
TACCTCCAGAAGTTTATGAATGCTCATAATGCATTAAAAACCTCTGGGTTTACCATGAAC c.3060
Y L Q K F M N A H N A L K T S G F T M N p.1020
. . . . . . g.9412
CCTCAGGCAAGCTTAGGGGACCCATTAGGCATAGAGGACTCTCTGGAAAGCCAAGATTCA c.3120
P Q A S L G D P L G I E D S L E S Q D S p.1040
. g.9424
ATGGAATTTTAA c.3132
M E F X p.1043
. . . . . . g.9484
gtagggcaaccacttatgagttggtttttgcaattgagtttccctctgggttgcattgag c.*60
. . . . . . g.9544
ggcttctcctagcaccctttactgctgtgtatggggcttcaccatccaagaggtggtagg c.*120
. . . . . . g.9604
ttggagtaagatgctacagatgctctcaagtcaggaatagaaactgatgagctgattgct c.*180
. . . . . . g.9664
tgaggcttttagtgagttccgaaaagcaacaggaaaaatcagttatctgaaagctcagta c.*240
. . . . . . g.9724
actcagaacaggagtaactgcaggggaccagagatgagcaaagatctgtgtgtgttgggg c.*300
. . . . . . g.9784
agctgtcatgtaaatcaaagccaaggttgtcaaagaacagccagtgaggccaggaaagaa c.*360
. . . . . . g.9844
attggtcttgtggttttcatttttttcccccttgattgattatattttgtattgagatat c.*420
. . . . . . g.9904
gataagtgccttctatttcatttttgaataattcttcatttttataattttacatatctt c.*480
. . . . . . g.9964
ggcttgctatataagattcaaaagagctttttaaatttttctaataatatcttacatttg c.*540
. . . . . . g.10024
tacagcatgatgacctttacaaagtgctctcaatgcatttacccattcgttatataaata c.*600
. . . . . . g.10084
tgttacatcaggacaactttgagaaaatcagtccttttttatgtttaaattatgtatcta c.*660
. . . . . . g.10144
ttgtaaccttcagagtttaggaggtcatctgctgtcatggatttttcaataatgaattta c.*720
. . . . . . g.10204
gaatacacctgttagctacagttagttattaaatcttctgataatatatgtttacttagc c.*780
. . . . . . g.10264
tatcagaagccaagtatgattctttatttttactttttcatttcaagaaatttagagttt c.*840
. . . . . . g.10324
ccaaatttagagcttctgcatacagtcttaaagccacagaggcttgtaaaaatataggtt c.*900
. . . . . . g.10384
agcttgatgtctaaaaatatatttcatgtcttactgaaacattttgccagactttctcca c.*960
. . . . . . g.10444
aatgaaacctgaatcaatttttctaaatctaggtttcatagagtcctctcctctgcaatg c.*1020
. . . . . . g.10504
tgttattctttctataatgatcagtttactttcagtggattcagaattgtgtagcaggat c.*1080
. . . . . . g.10564
aaccttgtatttttccatccgctaagtttagatggagtccaaacgcagtacagcagaaga c.*1140
. . . . . . g.10624
gttaacatttacacagtgctttttaccactgtggaatgttttcacactcatttttcctta c.*1200
. . . . . . g.10684
caacaattctgaggagtaggtgttgttattatctccatttgatgggggtttaaatgattt c.*1260
. . . . . . g.10744
gctcaaagtcatttaggggtaataaatacttggcttggaaatttaacacagtccttttgt c.*1320
. . . . . . g.10804
ctccaaagcccttcttctttccaccacaaattaatcactatgtttataaggtagtatcag c.*1380
. . . . . . g.10864
aatttttttaggattcacaactaatcactatagcacatgaccttgggattacatttttat c.*1440
. . . . . . g.10924
ggggcaggggtaagcaagtttttaaatcatttgtgtgctctggctcttttgatagaagaa c.*1500
. . . . . . g.10984
agcaacacaaaagctccaaagggccccctaaccctcttgtggctccagttatttggaaac c.*1560
. . . . . . g.11044
tatgatctgcatccttaggaatctgggatttgccagttgctggcaatgtagagcaggcat c.*1620
. . . . . . g.11104
ggaattttatatgctagtgagtcataatgatatgttagtgttaattagttttttcttcct c.*1680
. . . . . . g.11164
ttgattttattggccataattgctactcttcatacacagtatatcaaagagcttgataat c.*1740
. . . . . . g.11224
ttagttgtcaaaagtgcatcggcgacattatctttaattgtatgtatttggtgcttcttc c.*1800
. . . . . . g.11284
agggattgaactcagtatctttcattaaaaaacacagcagttttccttgctttttatatg c.*1860
. . . . . . g.11344
cagaatatcaaagtcatttctaatttagttgtcaaaaacatatacatattttaacattag c.*1920
. . . . . . g.11404
tttttttgaaaactcttggttttgtttttttggaaatgagtgggccactaagccacactt c.*1980
. . . . . . g.11464
tcccttcatcctgcttaatccttccagcatgtctctgcactaataaacagctaaattcac c.*2040
. . . . . . g.11524
ataatcatcctatttactgaagcatggtcatgctggtttatagattttttacccatttct c.*2100
. . . . . . g.11584
actctttttctctattggtggcactgtaaatactttccagtattaaattatccttttcta c.*2160
. . . . . . g.11644
acactgtaggaactattttgaatgcatgtgactaagagcatgatttatagcacaaccttt c.*2220
. . . . . . g.11704
ccaataatcccttaatcagatcacattttgataaaccctgggaacatctggctgcaggaa c.*2280
. . . . . . g.11764
tttcaatatgtagaaacgctgcctatggttttttgcccttactgttgagactgcaatatc c.*2340
. . . . . . g.11824
ctagaccctagttttatactagagttttatttttagcaatgcctattgcaagtgcaatta c.*2400
. . . . . . g.11884
tatactccagggaaattcaccacactgaatcgagcatttgtgtgtgtatgtgtgaagtat c.*2460
. . . . . . g.11944
atactgggacttcagaagtgcaatgtatttttctcctgtgaaacctgaatctacaagttt c.*2520
. . . . . . g.12004
tcctgccaagccactcaggtgcattgcagggaccagtgataatggctgatgaaaattgat c.*2580
. . . . . . g.12064
gattggtcagtgaggtcaaaaggagccttgggattaataaacatgcactgagaagcaaga c.*2640
. . . . . . g.12124
ggaggagaaaaagatgtctttttcttccaggtgaactggaatttagttttgcctcagatt c.*2700
. . . . . . g.12184
tttttcccacaagatacagaagaagataaagatttttttggttgagagtgtgggtcttgc c.*2760
. . . . . . g.12244
attacatcaaacagagttcaaattccacacagataagaggcaggatatataagcgccagt c.*2820
. . . . . . g.12304
ggtagttgggaggaataaaccattatttggatgcaggtggtttttgattgcaaatatgtg c.*2880
. . . . . . g.12364
tgtgtcttcagtgattgtatgacagatgatgtattcttttgatgttaaaagattttaagt c.*2940
. . . . . . g.12424
aagagtagatacattgtacccattttacattttcttattttaactacagtaatctacata c.*3000
. . . . . . g.12484
aatatacctcagaaatcatttttggtgattattttttgttttgtagaattgcacttcagt c.*3060
. . . . . . g.12544
ttattttcttacaaataaccttacattttgtttaatggcttccaagagcctttttttttt c.*3120
. . . . . . g.12604
ttgtatttcagagaaaattcaggtaccaggatgcaatggatttatttgattcaggggacc c.*3180
. . . . . . g.12664
tgtgtttccatgtcaaatgttttcaaataaaatgaaatatgagtttcaatactttttata c.*3240
. . . . . . g.12724
ttttaatatttccattcattaatattatggttattgtcagcaattttatgtttgaatatt c.*3300
. . g.12750
tgaaataaaagtttaagatttgaaaa c.*3326
(downstream sequence)
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