Linked Data
ClinVar Variation Id:
141416
ClinVar RCV Id:
RCV000129923
RCV000169006
RCV000212031
RCV001355219
RCV002492499
RCV003474755
RCV003162577
dbSNP Id:
rs587781730
gnomAD v2:
11-108178655-T-TA
gnomAD v3:
11-108307928-T-TA
gnomAD v4:
11-108307928-T-TA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108307934dup , CM000673.2:g.108307934dup | GRCh38 |
| NC_000011.9:g.108178661dup , CM000673.1:g.108178661dup | GRCh37 |
| NC_000011.8:g.107683871dup | NCBI36 |
| NG_009830.1:g.90103dup , LRG_135:g.90103dup | |
| NG_054724.1:g.166904dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.5712dup | ENSP00000388058.2:p.Ser1905IlefsTer25 | |
| ENST00000713593.1:c.*5183dup | ENSP00000518889.1:n.*5183dup | |
| ENST00000278616.9:c.5712dup | ENSP00000278616.4:p.Ser1905IlefsTer25 | |
| ENST00000525056.2:n.131dup | ||
| ENST00000682286.1:n.469dup | ||
| ENST00000682302.1:n.130dup | ||
| ENST00000683174.1:n.7196dup | ||
| ENST00000683524.1:n.936dup | ||
| ENST00000684152.1:n.1426dup | ||
| ENST00000527805.6:c.*776dup | ENSP00000435747.2:n.*776dup | |
| ENST00000675595.1:c.*776dup | ENSP00000502563.1:n.*776dup | |
| ENST00000675843.1:c.5712dup MANE Select | ENSP00000501606.1:p.Ser1905IlefsTer25 | |
| ENST00000278616.8:c.5712dup | ENSP00000278616.4:p.Ser1905IlefsTer25 | |
| ENST00000452508.6:c.5712dup | ENSP00000388058.2:p.Ser1905IlefsTer25 | |
| ENST00000524792.5:n.1927dup | ||
| ENST00000529588.5:c.187-2226dup | ||
| ENST00000533690.5:n.1116dup | ||
| NM_000051.3:c.5712dup , LRG_135t1:c.5712dup | NP_000042.3:p.Ser1905IlefsTer25 | |
| XM_005271561.3:c.5712dup | XP_005271618.2:p.Ser1905IlefsTer25 | |
| XM_005271562.3:c.5712dup | XP_005271619.2:p.Ser1905IlefsTer25 | |
| XM_006718843.2:c.5712dup | XP_006718906.1:p.Ser1905IlefsTer25 | |
| XM_006718845.1:c.1668dup | XP_006718908.1:p.Ser557IlefsTer25 | |
| XM_011542840.1:c.5712dup | XP_011541142.1:p.Ser1905IlefsTer25 | |
| XM_011542841.1:c.5712dup | XP_011541143.1:p.Ser1905IlefsTer25 | |
| XM_011542842.1:c.5547dup | XP_011541144.1:p.Ser1850IlefsTer25 | |
| XM_011542843.1:c.5712dup | XP_011541145.1:p.Ser1905IlefsTer25 | |
| XM_011542844.1:c.4668dup | XP_011541146.1:p.Ser1557IlefsTer25 | |
| XM_011542845.1:c.4404dup | XP_011541147.1:p.Ser1469IlefsTer25 | |
| XM_011542847.1:c.783dup | XP_011541149.1:p.Ser262IlefsTer25 | |
| NM_001351834.1:c.5712dup | NP_001338763.1:p.Ser1905IlefsTer25 | |
| XM_005271562.5:c.5712dup | XP_005271619.2:p.Ser1905IlefsTer25 | |
| XM_006718843.4:c.5712dup | XP_006718906.1:p.Ser1905IlefsTer25 | |
| XM_006718845.2:c.1668dup | XP_006718908.1:p.Ser557IlefsTer25 | |
| XM_011542840.3:c.5712dup | XP_011541142.1:p.Ser1905IlefsTer25 | |
| XM_011542842.3:c.5547dup | XP_011541144.1:p.Ser1850IlefsTer25 | |
| XM_011542843.2:c.5712dup | XP_011541145.1:p.Ser1905IlefsTer25 | |
| XM_011542844.3:c.4668dup | XP_011541146.1:p.Ser1557IlefsTer25 | |
| XM_011542845.2:c.4404dup | XP_011541147.1:p.Ser1469IlefsTer25 | |
| XM_017017789.2:c.5712dup | XP_016873278.1:p.Ser1905IlefsTer25 | |
| XM_017017790.2:c.5712dup | XP_016873279.1:p.Ser1905IlefsTer25 | |
| XM_017017791.1:c.5712dup | XP_016873280.1:p.Ser1905IlefsTer25 | |
| XR_002957150.1:n.6312dup | ||
| NM_001351834.2:c.5712dup | NP_001338763.1:p.Ser1905IlefsTer25 | |
| NM_000051.4:c.5712dup MANE Select | NP_000042.3:p.Ser1905IlefsTer25 |