(used for mutation description)
(last modified May 1, 2014)
This file was created to facilitate the description of sequence variants in the FANCI gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000015.9, covering FANCI transcript NM_001113378.1.
(upstream sequence)
. . . g.1030
tcttgttgttacgggtaacggaagtgtggc c.-61
. . . . . | 02 . g.4685
ggcgttgggttgagcgggctttttggaagtttgtggcggag | ttctgtgatatgagcaaca c.-1
. . . . . . g.4745
ATGGACCAGAAGATTTTATCTCTAGCAGCAGAAAAAACAGCAGACAAACTGCAAGAATTT c.60
M D Q K I L S L A A E K T A D K L Q E F p.20
. . | 03 . . . . g.15777
CTTCAAACCCTGAGAGAAGGTGAT | TTGACTAATCTCCTTCAGAATCAAGCAGTGAAAGGA c.120
L Q T L R E G D | L T N L L Q N Q A V K G p.40
. . . | 04. . . g.17773
AAAGTTGCTGGAGCACTCCTGAGAGCCATCTTCAAAG | GTTCCCCCTGCTCTGAGGAAGCT c.180
K V A G A L L R A I F K G | S P C S E E A p.60
. . . . . . g.17833
GGAACACTTAGGAGACGTAAGATATACACTTGTTGTATCCAGTTGGTGGAATCGGGGGAT c.240
G T L R R R K I Y T C C I Q L V E S G D p.80
. . . . | 05 . g.18634
TTGCAGAAAGAAATAGCGTCTGAGATCATAGGATTACTGATGCTGGAG | GCTCACCATTTT c.300
L Q K E I A S E I I G L L M L E | A H H F p.100
. . . . . . g.18694
CCAGGACCATTATTGGTTGAATTAGCCAATGAGTTTATTAGTGCTGTCAGAGAAGGCAGC c.360
P G P L L V E L A N E F I S A V R E G S p.120
. . . . . . g.18754
CTAGTGAATGGAAAATCTTTGGAGTTACTACCTATCATTCTCACTGCCCTGGCTACGAAA c.420
L V N G K S L E L L P I I L T A L A T K p.140
. . | 06 . . . . g.18893
AAGGAAAATCTGGCTTATGGAAAAG | GTGTACTGAGTGGGGAAGAATGTAAGAAACAGTTG c.480
K E N L A Y G K G | V L S G E E C K K Q L p.160
. . | 07 . . . . g.20493
ATTAACACCCTGTGTTCTGGCAG | GTGGGATCAGCAATATGTAATCCAACTCACCTCCATG c.540
I N T L C S G R | W D Q Q Y V I Q L T S M p.180
| 08 . . . . . . g.20995
TTCAA | GGATGTCCCTCTGACTGCAGAAGAGGTGGAATTTGTGGTGGAAAAAGCATTGAGC c.600
F K | D V P L T A E E V E F V V E K A L S p.200
. . . . . . g.21055
ATGTTCTCCAAGATGAATCTTCAAGAAATACCACCTTTGGTCTATCAGCTTCTGGTTCTC c.660
M F S K M N L Q E I P P L V Y Q L L V L p.220
| 09 . . . . . g.21610
TCCTCCAAG | GGAAGCAGAAAGAGTGTTTTGGAAGGAATCATAGCCTTCTTCAGTGCACTA c.720
S S K | G S R K S V L E G I I A F F S A L p.240
. . . | 10 . . . g.25461
GATAAGCAGCACAATGAGGAACAGAGTGGTGACGA | GCTATTGGATGTTGTCACTGTGCCA c.780
D K Q H N E E Q S G D E | L L D V V T V P p.260
. . . . . . g.25521
TCAGGTGAACTTCGTCATGTGGAAGGCACCATTATTCTACACATTGTGTTTGCCATCAAA c.840
S G E L R H V E G T I I L H I V F A I K p.280
. . . . | 11 . . g.30432
TTGGACTATGAACTAGGCAGAGAACTCGTGAAACACTTAAAG | GTAGGACAGCAAGGAGAT c.900
L D Y E L G R E L V K H L K | V G Q Q G D p.300
. . . . . . g.30492
TCCAATAATAACTTAAGTCCCTTCAGCATTGCTCTTCTTCTGTCTGTAACAAGAATACAA c.960
S N N N L S P F S I A L L L S V T R I Q p.320
. | 12 . . . . . g.31250
AGATTTCAGGACCAG | GTGCTTGATCTTTTAAAGACTTCGGTTGTAAAGAGCTTTAAGGAT c.1020
R F Q D Q | V L D L L K T S V V K S F K D p.340
. . . . . . g.31310
CTTCAACTCCTCCAAGGCTCAAAATTTCTTCAGAATCTAGTTCCTCATAGATCTTATGTT c.1080
L Q L L Q G S K F L Q N L V P H R S Y V p.360
. . . | 13 . . . g.33776
TCAACCATGATCTTGGAAGTAGTGAAGAATAG | CGTTCATAGCTGGGACCATGTTACTCAG c.1140
S T M I L E V V K N S | V H S W D H V T Q p.380
. . . . . . g.33836
GGCCTCGTAGAACTTGGTTTCATTTTGATGGATTCATATGGGCCAAAGAAGGTTCTTGAT c.1200
G L V E L G F I L M D S Y G P K K V L D p.400
. . . . . . g.33896
GGAAAAACTATTGAAACCAGCCCAAGTCTTTCTAGAATGCCAAACCAGCATGCATGTAAG c.1260
G K T I E T S P S L S R M P N Q H A C K p.420
. . . | 14 . . . g.35751
CTCGGAGCTAATATCCTGTTGGAAACTTTTAAG | ATCCATGAGATGATCAGACAAGAAATT c.1320
L G A N I L L E T F K | I H E M I R Q E I p.440
. . . . . . g.35811
TTGGAGCAGGTCCTCAACAGGGTTGTTACCAGAGCATCTTCTCCCATCAGTCATTTCTTA c.1380
L E Q V L N R V V T R A S S P I S H F L p.460
| 15 . . . . . . g.38266
G | ACCTGCTTTCAAATATCGTCATGTATGCACCCTTAGTTCTTCAAAGTTGTTCTTCTAAA c.1440
D | L L S N I V M Y A P L V L Q S C S S K p.480
. . . . . . g.38326
GTCACAGAAGCTTTTGACTATTTGTCCTTTCTGCCCCTTCAGACTGTACAAAGGCTGCTT c.1500
V T E A F D Y L S F L P L Q T V Q R L L p.500
. | 16 . . . . . g.38850
AAGGCAGTGCAG | CCCCTTCTCAAAGTCAGCATGTCAATGAGAGACTGCTTGATACTTGTC c.1560
K A V Q | P L L K V S M S M R D C L I L V p.520
. . | 17 . . . . g.40210
CTTCGGAAAGCTATGTTTGCCAA | CCAGCTTGATGCCCGAAAATCTGCAGTTGCTGGGTTT c.1620
L R K A M F A N | Q L D A R K S A V A G F p.540
. . . . . . g.40270
TTGCTGCTCCTGAAGAACTTTAAAGTTTTAGGCAGCCTGTCATCCTCTCAGTGCAGTCAG c.1680
L L L L K N F K V L G S L S S S Q C S Q p.560
. | 18 . . . . g.42175
TCTCTCAGTGTCAGTCAG | GTTCATGTGGATGTTCACAGCCATTACAATTCTGTCGCCAAT c.1740
S L S V S Q | V H V D V H S H Y N S V A N p.580
. . . . . . g.42235
GAAACTTTTTGCCTTGAGATCATGGATAGTTTGAGGAGATGCTTAAGCCAGCAAGCTGAT c.1800
E T F C L E I M D S L R R C L S Q Q A D p.600
. . | 19 . . . . g.47289
GTTCGACTCATGCTTTATGAG | GGGTTTTATGATGTTCTTCGAAGGAACTCTCAGCTGGCT c.1860
V R L M L Y E | G F Y D V L R R N S Q L A p.620
. . . | 20 . . . g.48680
AATTCAGTCATGCAAACTCTGCTCTCACAG | TTAAAACAGTTCTATGAGCCAAAACCTGAT c.1920
N S V M Q T L L S Q | L K Q F Y E P K P D p.640
. . . . . . g.48740
CTGCTGCCTCCTCTGAAATTAGAAGCTTGTATTCTGACCCAAGGAGATAAGATCTCTCTA c.1980
L L P P L K L E A C I L T Q G D K I S L p.660
. | 21 . . . . . g.49773
CAAGAACCACTG | GATTATCTGCTGTGTTGTATTCAGCATTGTTTGGCCTGGTATAAGAAT c.2040
Q E P L | D Y L L C C I Q H C L A W Y K N p.680
. . . . . . g.49833
ACAGTCATACCCTTACAGCAGGGAGAGGAGGAAGAGGAGGAGGAAGAGGCATTCTACGAA c.2100
T V I P L Q Q G E E E E E E E E A F Y E p.700
. . . . . . g.49893
GACCTAGATGATATATTGGAGTCCATTACTAATAGAATGATTAAGAGTGAGCTGGAAGAC c.2160
D L D D I L E S I T N R M I K S E L E D p.720
| 22 . . . . . g.50030
TTTGAACTG | GATAAATCAGCAGATTTTTCTCAGAGCACCAGTATTGGCATAAAAAATAAT c.2220
F E L | D K S A D F S Q S T S I G I K N N p.740
. . . . . . g.50090
ATCTGTGCTTTTCTTGTGATGGGAGTTTGTGAGGTTTTAATAGAATACAATTTCTCCATA c.2280
I C A F L V M G V C E V L I E Y N F S I p.760
. | 23 . . . . . g.50919
AGTAGTTTCAG | TAAGAATAGGTTTGAGGACATTCTGAGCTTATTTATGTGTTACAAAAAA c.2340
S S F S | K N R F E D I L S L F M C Y K K p.780
. . . . . . g.50979
CTCTCTGACATTCTTAATGAAAAAGCGGGTAAAGCCAAAACTAAAATGGCCAACAAGACA c.2400
L S D I L N E K A G K A K T K M A N K T p.800
. . . . . | 24 . g.51956
AGTGATAGTCTTTTGTCCATGAAATTTGTGTCCAGTCTTCTCACTGCTCTTTTCAG | GGAT c.2460
S D S L L S M K F V S S L L T A L F R | D p.820
. . . . . . g.52016
AGTATCCAAAGCCACCAAGAAAGCCTTTCTGTTCTCAGGTCCAGCAATGAGTTTATGCGC c.2520
S I Q S H Q E S L S V L R S S N E F M R p.840
. . . . . . g.52076
TATGCAGTGAATGTAGCTCTGCAGAAGGTACAGCAGCTAAAGGAAACAGGGCATGTGAGT c.2580
Y A V N V A L Q K V Q Q L K E T G H V S p.860
. . . . . | 25 . g.56841
GGCCCTGATGGCCAAAACCCAGAAAAGATCTTTCAGAACCTCTGTGACATAACTCG | AGTC c.2640
G P D G Q N P E K I F Q N L C D I T R | V p.880
. . . . . . g.56901
TTGCTATGGAGATACACTTCAATTCCTACTTCAGTGGAAGAGTCGGGAAAGAAAGAGAAA c.2700
L L W R Y T S I P T S V E E S G K K E K p.900
. . . . . . g.56961
GGAAAGAGCATCTCACTGCTGTGCTTGGAGGGTTTACAGAAAATATTCAGTGCTGTGCAA c.2760
G K S I S L L C L E G L Q K I F S A V Q p.920
. . . . | 26 . . g.57354
CAGTTCTATCAGCCCAAGATTCAGCAGTTTCTCAGAGCTCTGG | ATGTCACAGATAAGGAA c.2820
Q F Y Q P K I Q Q F L R A L D | V T D K E p.940
. . . . . . g.57414
GGAGAAGAGAGAGAAGATGCAGATGTCAGTGTCACTCAGAGAACAGCATTCCAGATCCGG c.2880
G E E R E D A D V S V T Q R T A F Q I R p.960
| 27 . . . . . g.58414
CAATTTCAG | AGGTCCTTGTTGAATTTACTTAGCAGTCAAGAGGAAGATTTTAATAGCAAA c.2940
Q F Q | R S L L N L L S S Q E E D F N S K p.980
. . . . . . g.58474
GAAGCCCTCCTGCTAGTCACGGTTCTTACCAGTTTGTCCAAGTTACTGGAGCCCTCCTCT c.3000
E A L L L V T V L T S L S K L L E P S S p.1000
| 28 . . . . . | 29 g.62154
CCTCAG | TTTGTGCAGATGTTATCCTGGACATCAAAGATTTGCAAGGAAAACAGCCGGG | AG c.3060
P Q | F V Q M L S W T S K I C K E N S R E | p.1020
. . . . . . g.62214
GATGCCTTGTTTTGCAAGAGCTTGATGAACTTGCTCTTCAGCCTGCATGTTTCGTATAAG c.3120
D A L F C K S L M N L L F S L H V S Y K p.1040
. . . . . . g.62274
AGTCCTGTCATTCTGCTGCGTGACTTGTCCCAGGATATCCACGGGCATCTGGGAGATATA c.3180
S P V I L L R D L S Q D I H G H L G D I p.1060
| 30 . . . . . . g.62432
GACCAG | GATGTAGAGGTGGAGAAAACAAACCACTTTGCAATAGTGAATTTGAGAACGGCT c.3240
D Q | D V E V E K T N H F A I V N L R T A p.1080
. | 31 . . . . . g.62687
GCCCCCACTGTCTGT | TTACTTGTTCTGAGTCAGGCCGAGAAGGTTCTAGAAGAAGTGGAC c.3300
A P T V C | L L V L S Q A E K V L E E V D p.1100
. . . . | 32 . g.63055
TGGCTAATCACCAAGCTTAAGGGACAAGTGAGCCAAGAAACCTTATCAG | AAGAGGCCTCT c.3360
W L I T K L K G Q V S Q E T L S E | E A S p.1120
. . . . . . g.63115
TCTCAGGCAACCCTACCAAATCAGCCTGTTGAGAAAGCTATCATCATGCAACTGGGAACT c.3420
S Q A T L P N Q P V E K A I I M Q L G T p.1140
. . . . . . g.63175
CTGCTTACATTTTTCCACGAGCTGGTGCAGACAGCTCTGCCATCAGGCAGCTGTGTGGAC c.3480
L L T F F H E L V Q T A L P S G S C V D p.1160
. . . . . | 33. g.64516
ACCTTGTTAAAGGACTTGTGCAAAATGTACACCACACTTACAGCCCTTGTCAGATAT | TAT c.3540
T L L K D L C K M Y T T L T A L V R Y | Y p.1180
. . . . . | 34 . g.64659
CTCCAGGTGTGTCAGAGCTCCGGAGGAATTCCAAAAAATATGGAAAAGCTG | GTGAAGCTG c.3600
L Q V C Q S S G G I P K N M E K L | V K L p.1200
. . . . . | 35 . g.69950
TCTGGTTCTCATCTGACCCCCCTGTGTTATTCTTTCATTTCTTACGTACAG | AATAAGAGT c.3660
S G S H L T P L C Y S F I S Y V Q | N K S p.1220
. . . . . . g.70010
AAGAGCCTGAACTATACGGGAGAGAAAAAGGAGAAACCTGCTGCCGTTGCCACAGCCATG c.3720
K S L N Y T G E K K E K P A A V A T A M p.1240
| 36 . . . . . . g.71709
| GCCAGAGTTCTTCGGGAAACCAAGCCAATCCCTAACCTCATCTTTGCCATAGAACAGTAT c.3780
| A R V L R E T K P I P N L I F A I E Q Y p.1260
. . . | 37 . . . g.72343
GAAAAATTTCTCATCCACCTTTCTAAGAAGTCCAAG | GTGAACCTGATGCAGCACATGAAG c.3840
E K F L I H L S K K S K | V N L M Q H M K p.1280
. . . . . . g.72403
CTCAGCACCTCACGAGACTTCAAGATCAAAGGAAACATCCTAGACATGGTTCTTCGAGAG c.3900
L S T S R D F K I K G N I L D M V L R E p.1300
. . | 38 . . . . g.73470
GATGGTGAAGATGAAAATGAAGAG | GGCACTGCATCAGAGCATGGGGGACAGAACAAAGAA c.3960
D G E D E N E E | G T A S E H G G Q N K E p.1320
. . g.73497
CCAGCCAAGAAGAAAAGGAAAAAATAA c.3987
P A K K K R K K X p.1328
. . . . . . g.73557
atgaaatgcctgagttaatgtgaactttggggcttctgcttcatttttacccaacaagca c.*60
. . . . . . g.73617
acaatgccccttgtcctgtagtccacaccgatgttggcatcttggttctgaacccactga c.*120
. . . . . . g.73677
attcaactgcaccttcagttagaaggaatcttcttggcaggtcctgctactgaaaaatgg c.*180
. . . . . . g.73737
ctggccttaggcaagcccttttgcaaaaagcacagctgaaagcctgagtttgggagcctg c.*240
. . . . . . g.73797
caccaccccgatgaagctccacgggagcaaatacagagcctccaggcagtgctatggtcc c.*300
. . . . . . g.73857
aggctggcttcgtttttccaaggagcctttggtgagttcaattatctggtaaatatccag c.*360
. . . . . . g.73917
cgcttcacctgaaagatagtgcaaattggttaggatgccacctcaagaactgtaactgag c.*420
. . . . . . g.73977
agctcagaagtgagcaaaggagcttaatgctaaggtcaaaaggagagtgaaaggttgaga c.*480
. . . . . . g.74037
acaattgccacgaacggtaatgttacatgttaggagggtctgttttctttttatataagt c.*540
. . . . . . g.74097
gtgtcttagatatattttaaatagaaaataagctttctgatttacttgtttggtatttaa c.*600
. . . . . . g.74157
agcacagtttgtttttctgtcacctatagagtgcaagaatgcactctatagaataaatta c.*660
. g.74169
tctttaaacatt c.*672
(downstream sequence)
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