(used for mutation description)
(last modified May 1, 2014)
This file was created to facilitate the description of sequence variants in the TAPBP gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000006.11, covering TAPBP transcript NM_003190.4.
(upstream sequence)
g.9
CTTCTTTGA | c.10
L L X p.2
. . | 02 . . . . g.207
atccttgcaggtggacaggtagacag | cagcccagcccagtgccttgaagagcccaagcag c.*60
. . . . . | 03 . g.346
aagaaaggcagacaggaaaaggcctacgctgtcctcaagggagggccctgaaagac | ctgc c.*120
. . . . . . g.406
tacctccagggtgacctcagcgctgcgccccgaggcaggcaggctgggatggtgaattcg c.*180
. . . . . . g.466
acaggcatagcgtgccccatgctgctcagtggtgactgggggcggctgcaagtgcccaga c.*240
. . . . . . g.526
gaggctgacagagccatcggaatggtggcgcagggccgagagccacctctgcccctcggc c.*300
. . . . . . g.586
cttctgagagcggccccctgggccaccccggagttcccactccacctccaggcccccaga c.*360
. . . . . . g.646
agggtagaagtgggacacaaggcagagcaattccgggggtgcctcccctggggcggcccg c.*420
. . . | 04 . . g.1056
tgcaagggttgctggcatcagggacactttggggggtt | tgtacacagcaagctccagggt c.*480
. . . . . . g.1116
gacctgtccttgcaggtatggcaggtgtatggtggccagataggtgccctcctgaaaggg c.*540
. . . . . . g.1176
ttgaactgtaggcagccagaaggtcccatttccggtccatgggccccatggctcatcatc c.*600
. . . . . . g.1236
atcccaagcagcaaatgccacggccccttcttgggctgctggcatctggccattcagccc c.*660
. . . . . . g.1296
aggagttgcagccaggagcagatgtcccttacccaggtgctggcgtcgccactctagccc c.*720
. . . . . . g.1356
aaagggagggggacccggagccagagatgaggcggcctcggaggtggggggcatgtaggc c.*780
. . . . . . g.1416
aaagctcaagtccagcagagcatcttgtcccagtctcactcgaggggcaggggtgtgggt c.*840
. | 05. . . . . g.9305
gaggacagtcagtacca | ctgttgccatggtgatgagaacaggctcctgctgaggctctgg c.*900
. . . . . . g.9365
ctgtggtcgcaagaggctggagaggctgaggactgggctggatatgctgaccatcagcca c.*960
. . . . . . g.9425
agccccatccagggcccgcgggcagttctgcgcgggggtcaggccgctggcccatttcgc c.*1020
. . . . . . g.9485
agaggcggggagaggcacgaagcggctcatctcgcagtgtggtgcgggggcgccccgggg c.*1080
. . . | 06 . . g.9761
ataccgcctgaaggcagcctggagggcgcccgcggggt | cgtgtacactgagatagagctc c.*1140
. . . . . . g.9821
agggtcgaggtccggccggggcggcggttcccccggtccctggcgcaacagcagtgcacc c.*1200
. . . . . . g.9881
gggtctcttggccaggccctttccgctcgcatcctccacgaaccaacactcgatcaccgc c.*1260
. . | 07 . . . g.10081
gggtcctgctgagacggcggtcgccaggc | ccaaagccacagcgaggagcagagacaggga c.*1320
. . . . . . g.10141
cttcatggcgctgcgacctcctcagccatgaagcctcctcttcctcctttcactttcact c.*1380
. . . . . . g.10201
ttcctccaaagggcggcatgaggggcggtggaaatccccgctctggttaggtgaaggtgc c.*1440
. . . . . . g.10261
ctgggggaccggtgtttccccactggccaggcagggacccgggtagatcctctccagttc c.*1500
. . . . . . g.10321
tcaccaggacaccccagccttaccgcgccctcctggactacccagcagccccgagttcga c.*1560
. . . . . . g.10381
gccctccccaaccccaggccctcccccgccccccaactcctgtgtgtgctctccaacatc c.*1620
. . . . . | 08 . g.10441
cacttgcccgaaaaccattactccggcttccccctatctgtgccgcgtcccc | c c.*1673
(downstream sequence)
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