This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier:
Get Identifier
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.[81511537A>C;81511570C>T;81511575C>G;81511587C>A] , CM000679.2:g.[81511537A>C;81511570C>T;81511575C>G;81511587C>A] | GRCh38 |
| NC_000017.10:g.[79478563A>C;79478596C>T;79478601C>G;79478613C>A] , CM000679.1:g.[79478563A>C;79478596C>T;79478601C>G;79478613C>A] | GRCh37 |
| NC_000017.9:g.[77093158A>C;77093191C>T;77093196C>G;77093208C>A] | NCBI36 |
| NG_011433.1:g.[6215G>T;6227G>C;6232G>A;6265T>G] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570382.2:c.[403G>T;415G>C;420G>A;453T>G] | ENSP00000466346.2:p.[Ala135Ser;Val139Leu;Leu140=;Ile151Met] | |
| ENST00000571691.6:c.[340-9G>T;343G>C;348G>A;381T>G] | ENSP00000461407.2:p.[Val115Leu;Leu116=;Ile127Met] | |
| ENST00000571721.6:c.[403G>T;415G>C;420G>A;453T>G] | ENSP00000460660.2:p.[Ala135Ser;Val139Leu;Leu140=;Ile151Met] | |
| ENST00000572105.7:c.[444G>T;456G>C;461G>A;494T>G] | ENSP00000462823.1:p.[Trp148Cys;Pro152=;Cys154Tyr;Leu165Trp] | |
| ENST00000573283.7:c.[403G>T;415G>C;420G>A;453T>G] MANE Select | ENSP00000458435.1:p.[Ala135Ser;Val139Leu;Leu140=;Ile151Met] | |
| ENST00000574671.6:n.[803G>T;815G>C;820G>A;853T>G] | ||
| ENST00000575659.6:c.[403G>T;415G>C;420G>A;453T>G] | ENSP00000459119.2:p.[Ala135Ser;Val139Leu;Leu140=;Ile151Met] | |
| ENST00000575994.6:c.[403G>T;415G>C;420G>A;453T>G] | ENSP00000460464.2:p.[Ala135Ser;Val139Leu;Leu140=;Ile151Met] | |
| ENST00000576214.3:n.[704G>T;716G>C;721G>A;754T>G] | ||
| ENST00000576544.6:c.[403G>T;415G>C;420G>A;453T>G] | ENSP00000461672.1:p.[Ala135Ser;Val139Leu;Leu140=;Ile151Met] | |
| ENST00000615544.5:c.[403G>T;415G>C;420G>A;453T>G] | ENSP00000477968.1:p.[Ala135Ser;Val139Leu;Leu140=;Ile151Met] | |
| ENST00000644774.2:c.[376G>T;388G>C;393G>A;426T>G] | ENSP00000493648.2:p.[Ala126Ser;Val130Leu;Leu131=;Ile142Met] | |
| ENST00000679410.1:n.[527G>T;539G>C;544G>A;577T>G] | ||
| ENST00000679480.1:c.[403G>T;415G>C;420G>A;453T>G] | ENSP00000506201.1:p.[Ala135Ser;Val139Leu;Leu140=;Ile151Met] | |
| ENST00000679535.1:n.[704G>T;716G>C;721G>A;754T>G] | ||
| ENST00000679778.1:c.[403G>T;415G>C;420G>A;453T>G] | ENSP00000505235.1:p.[Ala135Ser;Val139Leu;Leu140=;Ile151Met] | |
| ENST00000680227.1:c.[403G>T;415G>C;420G>A;453T>G] | ENSP00000506253.1:p.[Ala135Ser;Val139Leu;Leu140=;Ile151Met] | |
| ENST00000680727.1:c.[403G>T;415G>C;420G>A;453T>G] | ENSP00000505193.1:p.[Ala135Ser;Val139Leu;Leu140=;Ile151Met] | |
| ENST00000681052.1:c.[403G>T;415G>C;420G>A;453T>G] | ENSP00000505060.1:p.[Ala135Ser;Val139Leu;Leu140=;Ile151Met] | |
| ENST00000681092.1:c.[*207G>T;*219G>C;*224G>A;*257T>G] | ENSP00000506720.1:n.[*207G>T;*219G>C;*224G>A;*257T>G] | |
| ENST00000681842.1:c.[403G>T;415G>C;420G>A;453T>G] | ENSP00000506126.1:p.[Ala135Ser;Val139Leu;Leu140=;Ile151Met] | |
| ENST00000331925.6:c.[403G>T;415G>C;420G>A;453T>G] | ENSP00000331514.2:p.[Ala135Ser;Val139Leu;Leu140=;Ile151Met] | |
| ENST00000570382.1:c.[340-9G>T;343G>C;348G>A;381T>G] | ENSP00000466346.1:p.[Val115Leu;Leu116=;Ile127Met] | |
| ENST00000571691.5:c.[376G>T;388G>C;393G>A;426T>G] | ENSP00000461407.1:p.[Ala126Ser;Val130Leu;Leu131=;Ile142Met] | |
| ENST00000571721.5:c.[403G>T;415G>C;420G>A;453T>G] | ENSP00000460660.1:p.[Ala135Ser;Val139Leu;Leu140=;Ile151Met] | |
| ENST00000572105.6:c.[444G>T;456G>C;461G>A;494T>G] | ENSP00000462823.1:p.[Trp148Cys;Pro152=;Cys154Tyr;Leu165Trp] | |
| ENST00000573283.5:c.[403G>T;415G>C;420G>A;453T>G] | ENSP00000458435.1:p.[Ala135Ser;Val139Leu;Leu140=;Ile151Met] | |
| ENST00000574671.5:n.[262G>T;274G>C;279G>A;312T>G] | ||
| ENST00000575087.5:c.[403G>T;415G>C;420G>A;453T>G] | ENSP00000459124.1:p.[Ala135Ser;Val139Leu;Leu140=;Ile151Met] | |
| ENST00000575659.5:c.[403G>T;415G>C;420G>A;453T>G] | ENSP00000459119.1:p.[Ala135Ser;Val139Leu;Leu140=;Ile151Met] | |
| ENST00000575842.5:c.[403G>T;415G>C;420G>A;453T>G] | ENSP00000458162.1:p.[Ala135Ser;Val139Leu;Leu140=;Ile151Met] | |
| ENST00000575994.5:c.[403G>T;415G>C;420G>A;453T>G] | ENSP00000460464.1:p.[Ala135Ser;Val139Leu;Leu140=;Ile151Met] | |
| ENST00000576209.5:n.[288G>T;300G>C;305G>A;338T>G] | ||
| ENST00000576214.2:n.[601G>T;613G>C;618G>A;651T>G] | ||
| ENST00000576544.5:c.[403G>T;415G>C;420G>A;453T>G] | ENSP00000461672.1:p.[Ala135Ser;Val139Leu;Leu140=;Ile151Met] | |
| ENST00000576917.5:n.[456G>T;468G>C;473G>A;506T>G] | ||
| ENST00000615544.4:c.[403G>T;415G>C;420G>A;453T>G] | ENSP00000477968.1:p.[Ala135Ser;Val139Leu;Leu140=;Ile151Met] | |
| NM_001199954.1:c.[403G>T;415G>C;420G>A;453T>G] | NP_001186883.1:p.[Ala135Ser;Val139Leu;Leu140=;Ile151Met] | |
| NM_001614.3:c.[403G>T;415G>C;420G>A;453T>G] | NP_001605.1:p.[Ala135Ser;Val139Leu;Leu140=;Ile151Met] | |
| NR_037688.1:n.[542G>T;554G>C;559G>A;592T>G] | ||
| NM_001199954.2:c.[403G>T;415G>C;420G>A;453T>G] | NP_001186883.1:p.[Ala135Ser;Val139Leu;Leu140=;Ile151Met] | |
| NM_001614.4:c.[403G>T;415G>C;420G>A;453T>G] | NP_001605.1:p.[Ala135Ser;Val139Leu;Leu140=;Ile151Met] | |
| NR_037688.2:n.[475G>T;487G>C;492G>A;525T>G] | ||
| NM_001614.5:c.[403G>T;415G>C;420G>A;453T>G] MANE Select | NP_001605.1:p.[Ala135Ser;Val139Leu;Leu140=;Ile151Met] | |
| NR_037688.3:n.[475G>T;487G>C;492G>A;525T>G] | ||
| NM_001199954.3:c.[403G>T;415G>C;420G>A;453T>G] | NP_001186883.1:p.[Ala135Ser;Val139Leu;Leu140=;Ile151Met] |