ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108302890_108302891del , CM000673.2:g.108302890_108302891del | GRCh38 |
| NC_000011.9:g.108173617_108173618del , CM000673.1:g.108173617_108173618del | GRCh37 |
| NC_000011.8:g.107678827_107678828del | NCBI36 |
| NG_009830.1:g.85059_85060del , LRG_135:g.85059_85060del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.5357_5358del | ENSP00000388058.2:p.Phe1786Ter | |
| ENST00000713593.1:c.*4828_*4829del | ENSP00000518889.1:n.*4828_*4829del | |
| ENST00000278616.9:c.5357_5358del | ENSP00000278616.4:p.Phe1786Ter | |
| ENST00000683174.1:n.6841_6842del | ||
| ENST00000683524.1:n.581_582del | ||
| ENST00000684152.1:n.1071_1072del | ||
| ENST00000527805.6:c.*421_*422del | ENSP00000435747.2:n.*421_*422del | |
| ENST00000675595.1:c.*421_*422del | ENSP00000502563.1:n.*421_*422del | |
| ENST00000675843.1:c.5357_5358del MANE Select | ENSP00000501606.1:p.Phe1786Ter | |
| ENST00000278616.8:c.5357_5358del | ENSP00000278616.4:p.Phe1786Ter | |
| ENST00000452508.6:c.5357_5358del | ENSP00000388058.2:p.Phe1786Ter | |
| ENST00000524792.5:n.1572_1573del | ||
| ENST00000533690.5:n.761_762del | ||
| ENST00000534625.1:n.586_587del | ||
| NM_000051.3:c.5357_5358del , LRG_135t1:c.5357_5358del | NP_000042.3:p.Phe1786Ter | |
| XM_005271561.3:c.5357_5358del | XP_005271618.2:p.Phe1786Ter | |
| XM_005271562.3:c.5357_5358del | XP_005271619.2:p.Phe1786Ter | |
| XM_006718843.2:c.5357_5358del | XP_006718906.1:p.Phe1786Ter | |
| XM_006718845.1:c.1313_1314del | XP_006718908.1:p.Phe438Ter | |
| XM_011542840.1:c.5357_5358del | XP_011541142.1:p.Phe1786Ter | |
| XM_011542841.1:c.5357_5358del | XP_011541143.1:p.Phe1786Ter | |
| XM_011542842.1:c.5192_5193del | XP_011541144.1:p.Phe1731Ter | |
| XM_011542843.1:c.5357_5358del | XP_011541145.1:p.Phe1786Ter | |
| XM_011542844.1:c.4313_4314del | XP_011541146.1:p.Phe1438Ter | |
| XM_011542845.1:c.4049_4050del | XP_011541147.1:p.Phe1350Ter | |
| XM_011542846.1:c.*15_*16del | XP_011541148.1:n.*15_*16del | |
| XM_011542847.1:c.428_429del | XP_011541149.1:p.Phe143Ter | |
| NM_001351834.1:c.5357_5358del | NP_001338763.1:p.Phe1786Ter | |
| XM_005271562.5:c.5357_5358del | XP_005271619.2:p.Phe1786Ter | |
| XM_006718843.4:c.5357_5358del | XP_006718906.1:p.Phe1786Ter | |
| XM_006718845.2:c.1313_1314del | XP_006718908.1:p.Phe438Ter | |
| XM_011542840.3:c.5357_5358del | XP_011541142.1:p.Phe1786Ter | |
| XM_011542842.3:c.5192_5193del | XP_011541144.1:p.Phe1731Ter | |
| XM_011542843.2:c.5357_5358del | XP_011541145.1:p.Phe1786Ter | |
| XM_011542844.3:c.4313_4314del | XP_011541146.1:p.Phe1438Ter | |
| XM_011542845.2:c.4049_4050del | XP_011541147.1:p.Phe1350Ter | |
| XM_017017789.2:c.5357_5358del | XP_016873278.1:p.Phe1786Ter | |
| XM_017017790.2:c.5357_5358del | XP_016873279.1:p.Phe1786Ter | |
| XM_017017791.1:c.5357_5358del | XP_016873280.1:p.Phe1786Ter | |
| XM_017017792.2:c.*38_*39del | XP_016873281.1:n.*38_*39del | |
| XR_002957150.1:n.5957_5958del | ||
| NM_001351834.2:c.5357_5358del | NP_001338763.1:p.Phe1786Ter | |
| NM_000051.4:c.5357_5358del MANE Select | NP_000042.3:p.Phe1786Ter |