Linked Data
dbSNP Id:
rs11285784
gnomAD v2:
1-40312702-A-ATT
gnomAD v3:
1-39847030-A-ATT
gnomAD v4:
1-39847030-A-ATT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.39847043_39847044dup , CM000663.2:g.39847043_39847044dup | GRCh38 |
| NC_000001.10:g.40312715_40312716dup , CM000663.1:g.40312715_40312716dup | GRCh37 |
| NC_000001.9:g.40085302_40085303dup | NCBI36 |
| NG_042822.1:g.41480_41481dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316891.10:c.1006+188_1006+189dup MANE Select | ENSP00000321810.5:n.1006+188_1006+189dup | |
| ENST00000648678.1:c.1898+188_1898+189dup | ENSP00000497805.1:n.1898+188_1898+189dup | |
| ENST00000316891.9:c.1006+188_1006+189dup | ENSP00000321810.5:n.1006+188_1006+189dup | |
| ENST00000372818.5:c.928+516_928+517dup | ENSP00000361905.1:n.928+516_928+517dup | |
| ENST00000441669.6:c.760+188_760+189dup | ENSP00000388333.2:n.760+188_760+189dup | |
| ENST00000462797.5:c.1006+188_1006+189dup | ENSP00000473773.1:n.1006+188_1006+189dup | |
| ENST00000465417.5:n.190+188_190+189dup | ||
| ENST00000491865.5:n.241+188_241+189dup | ||
| ENST00000492612.6:c.850+188_850+189dup | ||
| ENST00000495175.6:c.*428+188_*428+189dup | ENSP00000474264.1:n.*428+188_*428+189dup | |
| ENST00000537440.5:c.94+188_94+189dup | ENSP00000437700.1:n.94+188_94+189dup | |
| ENST00000541099.5:c.-140-2392_-140-2391dup | ENSP00000437896.1:n.-140-2392_-140-2391dup | |
| NM_001312691.1:c.928+516_928+517dup | NP_001299620.1:n.928+516_928+517dup | |
| NM_001312692.1:c.760+188_760+189dup | NP_001299621.1:n.760+188_760+189dup | |
| NM_017646.4:c.1006+188_1006+189dup | NP_060116.2:n.1006+188_1006+189dup | |
| NM_017646.5:c.1006+188_1006+189dup | NP_060116.2:n.1006+188_1006+189dup | |
| NR_132401.1:n.1022+188_1022+189dup | ||
| NR_132402.1:n.880+188_880+189dup | ||
| NR_132403.1:n.876+188_876+189dup | ||
| NR_132404.1:n.876+188_876+189dup | ||
| NR_132405.1:n.872+188_872+189dup | ||
| NR_132406.1:n.763+188_763+189dup | ||
| NR_132407.1:n.640+188_640+189dup | ||
| NR_132408.1:n.636+188_636+189dup | ||
| NR_132409.1:n.497+188_497+189dup | ||
| NR_132410.1:n.523+188_523+189dup | ||
| NR_132412.1:n.384+188_384+189dup | ||
| NR_132413.1:n.195-2392_195-2391dup | ||
| NR_132414.1:n.195-5119_195-5118dup | ||
| NR_132415.1:n.1113+188_1113+189dup | ||
| XM_005270954.1:c.763+188_763+189dup | XP_005271011.1:n.763+188_763+189dup | |
| XM_006710706.1:c.583+188_583+189dup | XP_006710769.1:n.583+188_583+189dup | |
| XM_005270954.2:c.763+188_763+189dup | XP_005271011.1:n.763+188_763+189dup | |
| XR_946672.2:n.1106+188_1106+189dup | ||
| NM_017646.6:c.1006+188_1006+189dup MANE Select | NP_060116.2:n.1006+188_1006+189dup |