Linked Data
ClinVar Variation Id:
183797
dbSNP Id:
rs768748099
ExAC:
11:108114661 A / AT
gnomAD v2:
11-108114661-A-AT
gnomAD v3:
11-108243934-A-AT
gnomAD v4:
11-108243934-A-AT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108243949dup , CM000673.2:g.108243949dup | GRCh38 |
| NC_000011.9:g.108114676dup , CM000673.1:g.108114676dup | GRCh37 |
| NC_000011.8:g.107619886dup | NCBI36 |
| NG_009830.1:g.26118dup , LRG_135:g.26118dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.497-4dup | ENSP00000388058.2:n.497-4dup | |
| ENST00000713593.1:c.497-26dup | ENSP00000518889.1:n.497-26dup | |
| ENST00000278616.9:c.497-4dup | ENSP00000278616.4:n.497-4dup | |
| ENST00000682430.1:n.596-4dup | ||
| ENST00000682516.1:n.631-4dup | ||
| ENST00000682956.1:n.631-4dup | ||
| ENST00000683100.1:n.2171dup | ||
| ENST00000683174.1:n.647-4dup | ||
| ENST00000684037.1:c.497-4dup | ENSP00000508245.1:n.497-4dup | |
| ENST00000684061.1:n.631-4dup | ||
| ENST00000684179.1:n.466-4dup | ||
| ENST00000527805.6:c.497-4dup | ENSP00000435747.2:n.497-4dup | |
| ENST00000675595.1:c.332-4dup | ENSP00000502563.1:n.332-4dup | |
| ENST00000675843.1:c.497-4dup MANE Select | ENSP00000501606.1:n.497-4dup | |
| ENST00000278616.8:c.497-4dup | ENSP00000278616.4:n.497-4dup | |
| ENST00000452508.6:c.497-4dup | ENSP00000388058.2:n.497-4dup | |
| ENST00000527805.5:c.497-4dup | ENSP00000435747.1:n.497-4dup | |
| ENST00000527891.5:c.332-4dup | ENSP00000433955.1:n.332-4dup | |
| NM_000051.3:c.497-4dup , LRG_135t1:c.497-4dup | NP_000042.3:n.497-4dup | |
| XM_005271561.3:c.497-4dup | XP_005271618.2:n.497-4dup | |
| XM_005271562.3:c.497-4dup | XP_005271619.2:n.497-4dup | |
| XM_006718843.2:c.497-4dup | XP_006718906.1:n.497-4dup | |
| XM_011542840.1:c.497-4dup | XP_011541142.1:n.497-4dup | |
| XM_011542841.1:c.497-4dup | XP_011541143.1:n.497-4dup | |
| XM_011542842.1:c.332-4dup | XP_011541144.1:n.332-4dup | |
| XM_011542843.1:c.497-4dup | XP_011541145.1:n.497-4dup | |
| XM_011542844.1:c.-526-26dup | XP_011541146.1:n.-526-26dup | |
| XM_011542846.1:c.497-4dup | XP_011541148.1:n.497-4dup | |
| NM_001351834.1:c.497-4dup | NP_001338763.1:n.497-4dup | |
| XM_005271562.5:c.497-4dup | XP_005271619.2:n.497-4dup | |
| XM_006718843.4:c.497-4dup | XP_006718906.1:n.497-4dup | |
| XM_011542840.3:c.497-4dup | XP_011541142.1:n.497-4dup | |
| XM_011542842.3:c.332-4dup | XP_011541144.1:n.332-4dup | |
| XM_011542843.2:c.497-4dup | XP_011541145.1:n.497-4dup | |
| XM_011542844.3:c.-526-26dup | XP_011541146.1:n.-526-26dup | |
| XM_017017789.2:c.497-4dup | XP_016873278.1:n.497-4dup | |
| XM_017017790.2:c.497-4dup | XP_016873279.1:n.497-4dup | |
| XM_017017791.1:c.497-4dup | XP_016873280.1:n.497-4dup | |
| XM_017017792.2:c.497-4dup | XP_016873281.1:n.497-4dup | |
| XR_002957150.1:n.1230-4dup | ||
| NM_001351834.2:c.497-4dup | NP_001338763.1:n.497-4dup | |
| NM_000051.4:c.497-4dup MANE Select | NP_000042.3:n.497-4dup |