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Canonical Allele Identifier:
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Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.[81511512T>A;81511544G>C;81511547G>C;81511564G>C;81511566G>A;81511568G>T] , CM000679.2:g.[81511512T>A;81511544G>C;81511547G>C;81511564G>C;81511566G>A;81511568G>T] | GRCh38 |
| NC_000017.10:g.[79478538T>A;79478570G>C;79478573G>C;79478590G>C;79478592G>A;79478594G>T] , CM000679.1:g.[79478538T>A;79478570G>C;79478573G>C;79478590G>C;79478592G>A;79478594G>T] | GRCh37 |
| NC_000017.9:g.[77093133T>A;77093165G>C;77093168G>C;77093185G>C;77093187G>A;77093189G>T] | NCBI36 |
| NG_011433.1:g.[6234C>A;6236C>T;6238C>G;6255C>G;6258C>G;6290A>T] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570382.2:c.[422C>A;424C>T;426C>G;443C>G;446C>G;478A>T] | ENSP00000466346.2:p.[Ser141_Leu142delinsTyrPhe;Leu142=;Thr148... | |
| ENST00000571691.6:c.[350C>A;352C>T;354C>G;371C>G;374C>G;406A>T] | ENSP00000461407.2:p.[Ser117_Leu118delinsTyrPhe;Leu118=;Thr124... | |
| ENST00000571721.6:c.[422C>A;424C>T;426C>G;443C>G;446C>G;478A>T] | ENSP00000460660.2:p.[Ser141_Leu142delinsTyrPhe;Leu142=;Thr148... | |
| ENST00000572105.7:c.[463C>A;465C>T;467C>G;484C>G;487C>G;519A>T] | ENSP00000462823.1:p.[Pro155Ile;Ser156Cys;Pro162Ala;Leu163Val;... | |
| ENST00000573283.7:c.[422C>A;424C>T;426C>G;443C>G;446C>G;478A>T] MANE Select | ENSP00000458435.1:p.Ser141Ter | |
| ENST00000574671.6:n.[822C>A;824C>T;826C>G;843C>G;846C>G;878A>T] | ||
| ENST00000575659.6:c.[422C>A;424C>T;426C>G;443C>G;446C>G;478A>T] | ENSP00000459119.2:p.[Ser141Tyr;Leu142Trp;Thr148Ser;Thr149Ser;... | |
| ENST00000575994.6:c.[422C>A;424C>T;426C>G;443C>G;446C>G;478A>T] | ENSP00000460464.2:p.[Ser141Tyr;Leu142Phe;Leu142=;Thr148Ser;Th... | |
| ENST00000576214.3:n.[723C>A;725C>T;727C>G;744C>G;747C>G;779A>T] | ||
| ENST00000576544.6:c.[422C>A;424C>T;426C>G;443C>G;446C>G;478A>T] | ENSP00000461672.1:p.[Ser141Tyr;Leu142Ter] | |
| ENST00000615544.5:c.[422C>A;424C>T;426C>G;443C>G;446C>G;478A>T] | ENSP00000477968.1:p.[Ser141Tyr;Leu142Phe;Leu142=;Thr148Ser;Th... | |
| ENST00000644774.2:c.[395C>A;397C>T;399C>G;416C>G;419C>G;451A>T] | ENSP00000493648.2:p.[Ser132_Leu133delinsTyrPhe;Leu133=;Thr139... | |
| ENST00000679410.1:n.[546C>A;548C>T;550C>G;567C>G;570C>G;602A>T] | ||
| ENST00000679480.1:c.[422C>A;424C>T;426C>G;443C>G;446C>G;478A>T] | ENSP00000506201.1:p.[Ser141Tyr;Leu142Phe;Leu142=;Thr148Ser;Th... | |
| ENST00000679535.1:n.[723C>A;725C>T;727C>G;744C>G;747C>G;779A>T] | ||
| ENST00000679778.1:c.[422C>A;424C>T;426C>G;443C>G;446C>G;478A>T] | ENSP00000505235.1:p.[Ser141Tyr;Leu142Trp;Thr148Ser;Thr149Ser;... | |
| ENST00000680227.1:c.[422C>A;424C>T;426C>G;443C>G;446C>G;478A>T] | ENSP00000506253.1:p.[Ser141_Leu142delinsTyrPhe;Leu142=;Thr148... | |
| ENST00000680727.1:c.[422C>A;424C>T;426C>G;443C>G;446C>G;478A>T] | ENSP00000505193.1:p.[Ser141_Leu142delinsTyrPhe;Leu142=;Thr148... | |
| ENST00000681052.1:c.[422C>A;424C>T;426C>G;443C>G;446C>G;478A>T] | ENSP00000505060.1:p.[Ser141Tyr;Leu142Phe;Leu142=;Thr148Ser;Th... | |
| ENST00000681092.1:c.[*226C>A;*228C>T;*230C>G;*247C>G;*250C>G;*282A>T] | ENSP00000506720.1:n.[*226C>A;*228C>T;*230C>G;*247C>G;*250C>G;... | |
| ENST00000681842.1:c.[422C>A;424C>T;426C>G;443C>G;446C>G;478A>T] | ENSP00000506126.1:p.Ser141Ter | |
| ENST00000331925.6:c.[422C>A;424C>T;426C>G;443C>G;446C>G;478A>T] | ENSP00000331514.2:p.Ser141Ter | |
| ENST00000571691.5:c.[395C>A;397C>T;399C>G;416C>G;419C>G;451A>T] | ENSP00000461407.1:p.[Ser132_Leu133delinsTyrPhe;Leu133=;Thr139... | |
| ENST00000571721.5:c.[422C>A;424C>T;426C>G;443C>G;446C>G;478A>T] | ENSP00000460660.1:p.[Ser141_Leu142delinsTyrPhe;Leu142=;Thr148... | |
| ENST00000572105.6:c.[463C>A;465C>T;467C>G;484C>G;487C>G;519A>T] | ENSP00000462823.1:p.[Pro155Thr;Pro155=;Ser156Cys;Pro162Ala;Le... | |
| ENST00000573283.5:c.[422C>A;424C>T;426C>G;443C>G;446C>G;478A>T] | ENSP00000458435.1:p.[Ser141Tyr;Leu142Trp;Thr148Ser;Thr149Ser;... | |
| ENST00000574671.5:n.[281C>A;283C>T;285C>G;302C>G;305C>G;337A>T] | ||
| ENST00000575087.5:c.[422C>A;424C>T;426C>G;443C>G;446C>G;478A>T] | ENSP00000459124.1:p.[Ser141Tyr;Leu142Phe;Leu142=;Thr148Ser;Th... | |
| ENST00000575659.5:c.[422C>A;424C>T;426C>G;443C>G;446C>G;478A>T] | ENSP00000459119.1:p.[Ser141Tyr;Leu142Trp;Thr148Ser;Thr149Ser;... | |
| ENST00000575842.5:c.[422C>A;424C>T;426C>G;443C>G;446C>G;478A>T] | ENSP00000458162.1:p.[Ser141Tyr;Leu142Ser;Thr148Ser;Thr149Ser;... | |
| ENST00000575994.5:c.[422C>A;424C>T;426C>G;443C>G;446C>G;478A>T] | ENSP00000460464.1:p.[Ser141Tyr;Leu142Phe;Leu142=;Thr148Ser;Th... | |
| ENST00000576209.5:n.[307C>A;309C>T;311C>G;328C>G;331C>G;363A>T] | ||
| ENST00000576214.2:n.[620C>A;622C>T;624C>G;641C>G;644C>G;676A>T] | ||
| ENST00000576544.5:c.[422C>A;424C>T;426C>G;443C>G;446C>G;478A>T] | ENSP00000461672.1:p.[Ser141Tyr;Leu142Ter] | |
| ENST00000576917.5:n.[475C>A;477C>T;479C>G;496C>G;499C>G;531A>T] | ||
| ENST00000615544.4:c.[422C>A;424C>T;426C>G;443C>G;446C>G;478A>T] | ENSP00000477968.1:p.[Ser141Tyr;Leu142Ter] | |
| NM_001199954.1:c.[422C>A;424C>T;426C>G;443C>G;446C>G;478A>T] | NP_001186883.1:p.[Ser141_Leu142delinsTyrPhe;Leu142=;Thr148Ser... | |
| NM_001614.3:c.[422C>A;424C>T;426C>G;443C>G;446C>G;478A>T] | NP_001605.1:p.[Ser141Tyr;Leu142Ter] | |
| NR_037688.1:n.[561C>A;563C>T;565C>G;582C>G;585C>G;617A>T] | ||
| NM_001199954.2:c.[422C>A;424C>T;426C>G;443C>G;446C>G;478A>T] | NP_001186883.1:p.[Ser141Tyr;Leu142Phe;Leu142=;Thr148Ser;Thr14... | |
| NM_001614.4:c.[422C>A;424C>T;426C>G;443C>G;446C>G;478A>T] | NP_001605.1:p.Ser141Ter | |
| NR_037688.2:n.[494C>A;496C>T;498C>G;515C>G;518C>G;550A>T] | ||
| NM_001614.5:c.[422C>A;424C>T;426C>G;443C>G;446C>G;478A>T] MANE Select | NP_001605.1:p.Ser141Ter | |
| NR_037688.3:n.[494C>A;496C>T;498C>G;515C>G;518C>G;550A>T] | ||
| NM_001199954.3:c.[422C>A;424C>T;426C>G;443C>G;446C>G;478A>T] | NP_001186883.1:p.[Ser141Tyr;Leu142Phe;Leu142=;Thr148Ser;Thr14... |