Linked Data
ClinVar Variation Id:
2096568
ClinVar RCV Id:
RCV003028245
dbSNP Id:
rs750123250
gnomAD v2:
1-16380214-T-TCAAGGTTGTGACCTCCACAGACGTGGC
gnomAD v4:
1-16053719-T-TCAAGGTTGTGACCTCCACAGACGTGGC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16053724_16053750dup , CM000663.2:g.16053724_16053750dup | GRCh38 |
| NC_000001.10:g.16380219_16380245dup , CM000663.1:g.16380219_16380245dup | GRCh37 |
| NC_000001.9:g.16252806_16252832dup | NCBI36 |
| NG_013079.1:g.14973_14999dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682338.1:c.1708_1734dup | ENSP00000507062.1:p.Lys578_Tyr579insValValThrSerThrAspValAlaL... | |
| ENST00000682793.1:c.1708_1734dup | ENSP00000506910.1:p.Lys578_Tyr579insValValThrSerThrAspValAlaL... | |
| ENST00000682838.1:c.*1450_*1476dup | ENSP00000507652.1:n.*1450_*1476dup | |
| ENST00000683578.1:c.1708_1734dup | ENSP00000507430.1:p.Lys578_Tyr579insValValThrSerThrAspValAlaL... | |
| ENST00000683606.1:n.1314_1340dup | ||
| ENST00000683661.1:n.3243_3269dup | ||
| ENST00000684324.1:c.1708_1734dup | ENSP00000507937.1:p.Lys578_Tyr579insValValThrSerThrAspValAlaL... | |
| ENST00000684545.1:c.1708_1734dup | ENSP00000506733.1:p.Lys578_Tyr579insValValThrSerThrAspValAlaL... | |
| ENST00000684624.1:n.1085_1111dup | ||
| ENST00000684714.1:c.1707+1_1707+27dup | ||
| ENST00000684731.1:n.1083+1313_1083+1339dup | ||
| ENST00000375679.9:c.1708_1734dup MANE Select | ENSP00000364831.5:p.Lys578_Tyr579insValValThrSerThrAspValAlaL... | |
| ENST00000375667.7:c.1201_1227dup | ENSP00000364819.3:p.Lys409_Tyr410insValValThrSerThrAspValAlaL... | |
| ENST00000375679.8:c.1708_1734dup | ENSP00000364831.4:p.Lys578_Tyr579insValValThrSerThrAspValAlaL... | |
| ENST00000431772.1:c.175_201dup | ENSP00000389344.1:p.Lys67_Tyr68insValValThrSerThrAspValAlaLys... | |
| ENST00000619181.4:c.1293+34_1293+60dup | ENSP00000483866.1:n.1293+34_1293+60dup | |
| NM_000085.4:c.1708_1734dup | NP_000076.2:p.Lys578_Tyr579insValValThrSerThrAspValAlaLys | |
| NM_001165945.2:c.1201_1227dup | NP_001159417.2:p.Lys409_Tyr410insValValThrSerThrAspValAlaLys | |
| XM_011540619.1:c.1549_1575dup | XP_011538921.1:p.Lys525_Tyr526insValValThrSerThrAspValAlaLys | |
| XM_011540621.1:c.1057_1083dup | XP_011538923.1:p.Lys361_Tyr362insValValThrSerThrAspValAlaLys | |
| NM_000085.5:c.1708_1734dup MANE Select | NP_000076.2:p.Lys578_Tyr579insValValThrSerThrAspValAlaLys |