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Canonical Allele Identifier:
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Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.[81511512T>A;81511527A>T;81511566G>A;81511573C=;81511586G>T] , CM000679.2:g.[81511512T>A;81511527A>T;81511566G>A;81511573C=;81511586G>T] | GRCh38 |
| NC_000017.10:g.[79478538T>A;79478553A>T;79478592G>A;79478599C=;79478612G>T] , CM000679.1:g.[79478538T>A;79478553A>T;79478592G>A;79478599C=;79478612G>T] | GRCh37 |
| NC_000017.9:g.[77093133T>A;77093148A>T;77093187G>A;77093194C=;77093207G>T] | NCBI36 |
| NG_011433.1:g.[6216C>A;6229G=;6236C>T;6275T>A;6290A>T] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570382.2:c.[404C>A;417G=;424C>T;463T>A;478A>T] | ENSP00000466346.2:p.[Ala135Asp;Val139=;Leu142Phe;Ser155Thr;Th... | |
| ENST00000571691.6:c.[340-8C>A;345G=;352C>T;391T>A;406A>T] | ENSP00000461407.2:p.[Val115=;Leu118Phe;Ser131Thr;Thr136Ser] | |
| ENST00000571721.6:c.[404C>A;417G=;424C>T;463T>A;478A>T] | ENSP00000460660.2:p.[Ala135Asp;Val139=;Leu142Phe;Ser155Thr;Th... | |
| ENST00000572105.7:c.[445C>A;458G=;465C>T;504T>A;519A>T] | ENSP00000462823.1:p.[Pro149Thr;Cys153=;Pro155=;Thr168=;Ser173... | |
| ENST00000573283.7:c.[404C>A;417G=;424C>T;463T>A;478A>T] MANE Select | ENSP00000458435.1:p.[Ala135Asp;Val139=;Leu142Phe;Ser155Thr;Th... | |
| ENST00000574671.6:n.[804C>A;817G=;824C>T;863T>A;878A>T] | ||
| ENST00000575659.6:c.[404C>A;417G=;424C>T;463T>A;478A>T] | ENSP00000459119.2:p.[Ala135Asp;Val139=;Leu142Phe;Ser155Thr;Th... | |
| ENST00000575994.6:c.[404C>A;417G=;424C>T;463T>A;478A>T] | ENSP00000460464.2:p.[Ala135Asp;Val139=;Leu142Phe;Ser155Thr;Th... | |
| ENST00000576214.3:n.[705C>A;718G=;725C>T;764T>A;779A>T] | ||
| ENST00000576544.6:c.[404C>A;417G=;424C>T;463T>A;478A>T] | ENSP00000461672.1:p.[Ala135Asp;Val139=;Leu142Phe;Ser155Thr;Th... | |
| ENST00000615544.5:c.[404C>A;417G=;424C>T;463T>A;478A>T] | ENSP00000477968.1:p.[Ala135Asp;Val139=;Leu142Phe;Ser155Thr;Th... | |
| ENST00000644774.2:c.[377C>A;390G=;397C>T;436T>A;451A>T] | ENSP00000493648.2:p.[Ala126Asp;Val130=;Leu133Phe;Ser146Thr;Th... | |
| ENST00000679410.1:n.[528C>A;541G=;548C>T;587T>A;602A>T] | ||
| ENST00000679480.1:c.[404C>A;417G=;424C>T;463T>A;478A>T] | ENSP00000506201.1:p.[Ala135Asp;Val139=;Leu142Phe;Ser155Thr;Th... | |
| ENST00000679535.1:n.[705C>A;718G=;725C>T;764T>A;779A>T] | ||
| ENST00000679778.1:c.[404C>A;417G=;424C>T;463T>A;478A>T] | ENSP00000505235.1:p.[Ala135Asp;Val139=;Leu142Phe;Ser155Thr;Th... | |
| ENST00000680227.1:c.[404C>A;417G=;424C>T;463T>A;478A>T] | ENSP00000506253.1:p.[Ala135Asp;Val139=;Leu142Phe;Ser155Thr;Th... | |
| ENST00000680727.1:c.[404C>A;417G=;424C>T;463T>A;478A>T] | ENSP00000505193.1:p.[Ala135Asp;Val139=;Leu142Phe;Ser155Thr;Th... | |
| ENST00000681052.1:c.[404C>A;417G=;424C>T;463T>A;478A>T] | ENSP00000505060.1:p.[Ala135Asp;Val139=;Leu142Phe;Ser155Thr;Th... | |
| ENST00000681092.1:c.[*208C>A;*221G=;*228C>T;*267T>A;*282A>T] | ENSP00000506720.1:n.[*208C>A;*221G=;*228C>T;*267T>A;*282A>T] | |
| ENST00000681842.1:c.[404C>A;417G=;424C>T;463T>A;478A>T] | ENSP00000506126.1:p.[Ala135Asp;Val139=;Leu142Phe;Ser155Thr;Th... | |
| ENST00000331925.6:c.[404C>A;417G=;424C>T;463T>A;478A>T] | ENSP00000331514.2:p.[Ala135Asp;Val139=;Leu142Phe;Ser155Thr;Th... | |
| ENST00000571691.5:c.[377C>A;390G=;397C>T;436T>A;451A>T] | ENSP00000461407.1:p.[Ala126Asp;Val130=;Leu133Phe;Ser146Thr;Th... | |
| ENST00000571721.5:c.[404C>A;417G=;424C>T;463T>A;478A>T] | ENSP00000460660.1:p.[Ala135Asp;Val139=;Leu142Phe;Ser155Thr;Th... | |
| ENST00000572105.6:c.[445C>A;458G=;465C>T;504T>A;519A>T] | ENSP00000462823.1:p.[Pro149Thr;Cys153=;Pro155=;Thr168=;Ser173... | |
| ENST00000573283.5:c.[404C>A;417G=;424C>T;463T>A;478A>T] | ENSP00000458435.1:p.[Ala135Asp;Val139=;Leu142Phe;Ser155Thr;Th... | |
| ENST00000574671.5:n.[263C>A;276G=;283C>T;322T>A;337A>T] | ||
| ENST00000575087.5:c.[404C>A;417G=;424C>T;463T>A;478A>T] | ENSP00000459124.1:p.[Ala135Asp;Val139=;Leu142Phe;Ser155Thr;Th... | |
| ENST00000575659.5:c.[404C>A;417G=;424C>T;463T>A;478A>T] | ENSP00000459119.1:p.[Ala135Asp;Val139=;Leu142Phe;Ser155Thr;Th... | |
| ENST00000575842.5:c.[404C>A;417G=;424C>T;463T>A;478A>T] | ENSP00000458162.1:p.[Ala135Asp;Val139=;Leu142Phe;Ser155Thr;Th... | |
| ENST00000575994.5:c.[404C>A;417G=;424C>T;463T>A;478A>T] | ENSP00000460464.1:p.[Ala135Asp;Val139=;Leu142Phe;Ser155Thr;Th... | |
| ENST00000576209.5:n.[289C>A;302G=;309C>T;348T>A;363A>T] | ||
| ENST00000576214.2:n.[602C>A;615G=;622C>T;661T>A;676A>T] | ||
| ENST00000576544.5:c.[404C>A;417G=;424C>T;463T>A;478A>T] | ENSP00000461672.1:p.[Ala135Asp;Val139=;Leu142Phe;Ser155Thr;Th... | |
| ENST00000576917.5:n.[457C>A;470G=;477C>T;516T>A;531A>T] | ||
| ENST00000615544.4:c.[404C>A;417G=;424C>T;463T>A;478A>T] | ENSP00000477968.1:p.[Ala135Asp;Val139=;Leu142Phe;Ser155Thr;Th... | |
| NM_001199954.1:c.[404C>A;417G=;424C>T;463T>A;478A>T] | NP_001186883.1:p.[Ala135Asp;Val139=;Leu142Phe;Ser155Thr;Thr16... | |
| NM_001614.3:c.[404C>A;417G=;424C>T;463T>A;478A>T] | NP_001605.1:p.[Ala135Asp;Val139=;Leu142Phe;Ser155Thr;Thr160Se... | |
| NR_037688.1:n.[543C>A;556G=;563C>T;602T>A;617A>T] | ||
| NM_001199954.2:c.[404C>A;417G=;424C>T;463T>A;478A>T] | NP_001186883.1:p.[Ala135Asp;Val139=;Leu142Phe;Ser155Thr;Thr16... | |
| NM_001614.4:c.[404C>A;417G=;424C>T;463T>A;478A>T] | NP_001605.1:p.[Ala135Asp;Val139=;Leu142Phe;Ser155Thr;Thr160Se... | |
| NR_037688.2:n.[476C>A;489G=;496C>T;535T>A;550A>T] | ||
| NM_001614.5:c.[404C>A;417G=;424C>T;463T>A;478A>T] MANE Select | NP_001605.1:p.[Ala135Asp;Val139=;Leu142Phe;Ser155Thr;Thr160Se... | |
| NR_037688.3:n.[476C>A;489G=;496C>T;535T>A;550A>T] | ||
| NM_001199954.3:c.[404C>A;417G=;424C>T;463T>A;478A>T] | NP_001186883.1:p.[Ala135Asp;Val139=;Leu142Phe;Ser155Thr;Thr16... |