This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108302993dup , CM000673.2:g.108302993dup | GRCh38 |
| NC_000011.9:g.108173720dup , CM000673.1:g.108173720dup | GRCh37 |
| NC_000011.8:g.107678930dup | NCBI36 |
| NG_009830.1:g.85162dup , LRG_135:g.85162dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.5460dup | ENSP00000388058.2:p.Cys1821MetfsTer2 | |
| ENST00000713593.1:c.*4931dup | ENSP00000518889.1:n.*4931dup | |
| ENST00000278616.9:c.5460dup | ENSP00000278616.4:p.Cys1821MetfsTer2 | |
| ENST00000683174.1:n.6944dup | ||
| ENST00000683524.1:n.684dup | ||
| ENST00000684152.1:n.1174dup | ||
| ENST00000527805.6:c.*524dup | ENSP00000435747.2:n.*524dup | |
| ENST00000675595.1:c.*524dup | ENSP00000502563.1:n.*524dup | |
| ENST00000675843.1:c.5460dup MANE Select | ENSP00000501606.1:p.Cys1821MetfsTer2 | |
| ENST00000278616.8:c.5460dup | ENSP00000278616.4:p.Cys1821MetfsTer2 | |
| ENST00000452508.6:c.5460dup | ENSP00000388058.2:p.Cys1821MetfsTer2 | |
| ENST00000524792.5:n.1675dup | ||
| ENST00000533690.5:n.864dup | ||
| ENST00000534625.1:n.689dup | ||
| NM_000051.3:c.5460dup , LRG_135t1:c.5460dup | NP_000042.3:p.Cys1821MetfsTer2 | |
| XM_005271561.3:c.5460dup | XP_005271618.2:p.Cys1821MetfsTer2 | |
| XM_005271562.3:c.5460dup | XP_005271619.2:p.Cys1821MetfsTer2 | |
| XM_006718843.2:c.5460dup | XP_006718906.1:p.Cys1821MetfsTer2 | |
| XM_006718845.1:c.1416dup | XP_006718908.1:p.Cys473MetfsTer2 | |
| XM_011542840.1:c.5460dup | XP_011541142.1:p.Cys1821MetfsTer2 | |
| XM_011542841.1:c.5460dup | XP_011541143.1:p.Cys1821MetfsTer2 | |
| XM_011542842.1:c.5295dup | XP_011541144.1:p.Cys1766MetfsTer2 | |
| XM_011542843.1:c.5460dup | XP_011541145.1:p.Cys1821MetfsTer2 | |
| XM_011542844.1:c.4416dup | XP_011541146.1:p.Cys1473MetfsTer2 | |
| XM_011542845.1:c.4152dup | XP_011541147.1:p.Cys1385MetfsTer2 | |
| XM_011542847.1:c.531dup | XP_011541149.1:p.Cys178MetfsTer2 | |
| NM_001351834.1:c.5460dup | NP_001338763.1:p.Cys1821MetfsTer2 | |
| XM_005271562.5:c.5460dup | XP_005271619.2:p.Cys1821MetfsTer2 | |
| XM_006718843.4:c.5460dup | XP_006718906.1:p.Cys1821MetfsTer2 | |
| XM_006718845.2:c.1416dup | XP_006718908.1:p.Cys473MetfsTer2 | |
| XM_011542840.3:c.5460dup | XP_011541142.1:p.Cys1821MetfsTer2 | |
| XM_011542842.3:c.5295dup | XP_011541144.1:p.Cys1766MetfsTer2 | |
| XM_011542843.2:c.5460dup | XP_011541145.1:p.Cys1821MetfsTer2 | |
| XM_011542844.3:c.4416dup | XP_011541146.1:p.Cys1473MetfsTer2 | |
| XM_011542845.2:c.4152dup | XP_011541147.1:p.Cys1385MetfsTer2 | |
| XM_017017789.2:c.5460dup | XP_016873278.1:p.Cys1821MetfsTer2 | |
| XM_017017790.2:c.5460dup | XP_016873279.1:p.Cys1821MetfsTer2 | |
| XM_017017791.1:c.5460dup | XP_016873280.1:p.Cys1821MetfsTer2 | |
| XR_002957150.1:n.6060dup | ||
| NM_001351834.2:c.5460dup | NP_001338763.1:p.Cys1821MetfsTer2 | |
| NM_000051.4:c.5460dup MANE Select | NP_000042.3:p.Cys1821MetfsTer2 |