This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier:
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Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.[81511511G>C;81511540G>T;81511567G>C;81511569A>G;81511586G>T] , CM000679.2:g.[81511511G>C;81511540G>T;81511567G>C;81511569A>G;81511586G>T] | GRCh38 |
| NC_000017.10:g.[79478537G>C;79478566G>T;79478593G>C;79478595A>G;79478612G>T] , CM000679.1:g.[79478537G>C;79478566G>T;79478593G>C;79478595A>G;79478612G>T] | GRCh37 |
| NC_000017.9:g.[77093132G>C;77093161G>T;77093188G>C;77093190A>G;77093207G>T] | NCBI36 |
| NG_011433.1:g.[6216C>A;6233T>C;6235C>G;6262C>A;6291C>G] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570382.2:c.[404C>A;421T>C;423C>G;450C>A;479C>G] | ENSP00000466346.2:p.[Ala135Asp;Ser141Pro;Ser141=;Gly150=;Thr1... | |
| ENST00000571691.6:c.[340-8C>A;349T>C;351C>G;378C>A;407C>G] | ENSP00000461407.2:p.[Ser117Pro;Ser117=;Gly126=;Thr136Ser] | |
| ENST00000571721.6:c.[404C>A;421T>C;423C>G;450C>A;479C>G] | ENSP00000460660.2:p.[Ala135Asp;Ser141Pro;Ser141=;Gly150=;Thr1... | |
| ENST00000572105.7:c.[445C>A;462T>C;464C>G;491C>A;520C>G] | ENSP00000462823.1:p.[Pro149Thr;Cys154=;Pro155Arg;Ala164Glu;Pr... | |
| ENST00000573283.7:c.[404C>A;421T>C;423C>G;450C>A;479C>G] MANE Select | ENSP00000458435.1:p.[Ala135Asp;Ser141Pro;Ser141=;Gly150=;Thr1... | |
| ENST00000574671.6:n.[804C>A;821T>C;823C>G;850C>A;879C>G] | ||
| ENST00000575659.6:c.[404C>A;421T>C;423C>G;450C>A;479C>G] | ENSP00000459119.2:p.[Ala135Asp;Ser141Pro;Gly150=;Thr160Ser] | |
| ENST00000575994.6:c.[404C>A;421T>C;423C>G;450C>A;479C>G] | ENSP00000460464.2:p.[Ala135Asp;Ser141Pro;Ser141=;Gly150=;Thr1... | |
| ENST00000576214.3:n.[705C>A;722T>C;724C>G;751C>A;780C>G] | ||
| ENST00000576544.6:c.[404C>A;421T>C;423C>G;450C>A;479C>G] | ENSP00000461672.1:p.[Ala135Asp;Ser141Leu;Gly150=;Thr160Ser] | |
| ENST00000615544.5:c.[404C>A;421T>C;423C>G;450C>A;479C>G] | ENSP00000477968.1:p.[Ala135Asp;Ser141Pro;Ser141=;Gly150=;Thr1... | |
| ENST00000644774.2:c.[377C>A;394T>C;396C>G;423C>A;452C>G] | ENSP00000493648.2:p.[Ala126Asp;Ser132Pro;Ser132=;Gly141=;Thr1... | |
| ENST00000679410.1:n.[528C>A;545T>C;547C>G;574C>A;603C>G] | ||
| ENST00000679480.1:c.[404C>A;421T>C;423C>G;450C>A;479C>G] | ENSP00000506201.1:p.[Ala135Asp;Ser141Pro;Ser141=;Gly150=;Thr1... | |
| ENST00000679535.1:n.[705C>A;722T>C;724C>G;751C>A;780C>G] | ||
| ENST00000679778.1:c.[404C>A;421T>C;423C>G;450C>A;479C>G] | ENSP00000505235.1:p.[Ala135Asp;Ser141Pro;Gly150=;Thr160Ser] | |
| ENST00000680227.1:c.[404C>A;421T>C;423C>G;450C>A;479C>G] | ENSP00000506253.1:p.[Ala135Asp;Ser141Pro;Ser141=;Gly150=;Thr1... | |
| ENST00000680727.1:c.[404C>A;421T>C;423C>G;450C>A;479C>G] | ENSP00000505193.1:p.[Ala135Asp;Ser141Pro;Ser141=;Gly150=;Thr1... | |
| ENST00000681052.1:c.[404C>A;421T>C;423C>G;450C>A;479C>G] | ENSP00000505060.1:p.[Ala135Asp;Ser141Pro;Ser141=;Gly150=;Thr1... | |
| ENST00000681092.1:c.[*208C>A;*225T>C;*227C>G;*254C>A;*283C>G] | ENSP00000506720.1:n.[*208C>A;*225T>C;*227C>G;*254C>A;*283C>G]... | |
| ENST00000681842.1:c.[404C>A;421T>C;423C>G;450C>A;479C>G] | ENSP00000506126.1:p.[Ala135Asp;Ser141Pro;Ser141=;Gly150=;Thr1... | |
| ENST00000331925.6:c.[404C>A;421T>C;423C>G;450C>A;479C>G] | ENSP00000331514.2:p.[Ala135Asp;Ser141Pro;Ser141=;Gly150=;Thr1... | |
| ENST00000571691.5:c.[377C>A;394T>C;396C>G;423C>A;452C>G] | ENSP00000461407.1:p.[Ala126Asp;Ser132Pro;Ser132=;Gly141=;Thr1... | |
| ENST00000571721.5:c.[404C>A;421T>C;423C>G;450C>A;479C>G] | ENSP00000460660.1:p.[Ala135Asp;Ser141Pro;Ser141=;Gly150=;Thr1... | |
| ENST00000572105.6:c.[445C>A;462T>C;464C>G;491C>A;520C>G] | ENSP00000462823.1:p.[Pro149Thr;Cys154=;Pro155Arg;Ala164Glu;Pr... | |
| ENST00000573283.5:c.[404C>A;421T>C;423C>G;450C>A;479C>G] | ENSP00000458435.1:p.[Ala135Asp;Ser141Arg;Gly150=;Thr160Ser] | |
| ENST00000574671.5:n.[263C>A;280T>C;282C>G;309C>A;338C>G] | ||
| ENST00000575087.5:c.[404C>A;421T>C;423C>G;450C>A;479C>G] | ENSP00000459124.1:p.[Ala135Asp;Ser141Pro;Ser141=;Gly150=;Thr1... | |
| ENST00000575659.5:c.[404C>A;421T>C;423C>G;450C>A;479C>G] | ENSP00000459119.1:p.[Ala135Asp;Ser141Pro;Gly150=;Thr160Ser] | |
| ENST00000575842.5:c.[404C>A;421T>C;423C>G;450C>A;479C>G] | ENSP00000458162.1:p.[Ala135Asp;Ser141Pro;Gly150=;Thr160Ser] | |
| ENST00000575994.5:c.[404C>A;421T>C;423C>G;450C>A;479C>G] | ENSP00000460464.1:p.[Ala135Asp;Ser141Pro;Ser141=;Gly150=;Thr1... | |
| ENST00000576209.5:n.[289C>A;306T>C;308C>G;335C>A;364C>G] | ||
| ENST00000576214.2:n.[602C>A;619T>C;621C>G;648C>A;677C>G] | ||
| ENST00000576544.5:c.[404C>A;421T>C;423C>G;450C>A;479C>G] | ENSP00000461672.1:p.[Ala135Asp;Ser141Leu;Gly150=;Thr160Ser] | |
| ENST00000576917.5:n.[457C>A;474T>C;476C>G;503C>A;532C>G] | ||
| ENST00000615544.4:c.[404C>A;421T>C;423C>G;450C>A;479C>G] | ENSP00000477968.1:p.[Ala135Asp;Ser141Leu;Gly150=;Thr160Ser] | |
| NM_001199954.1:c.[404C>A;421T>C;423C>G;450C>A;479C>G] | NP_001186883.1:p.[Ala135Asp;Ser141Pro;Ser141=;Gly150=;Thr160S... | |
| NM_001614.3:c.[404C>A;421T>C;423C>G;450C>A;479C>G] | NP_001605.1:p.[Ala135Asp;Ser141Leu;Gly150=;Thr160Ser] | |
| NR_037688.1:n.[543C>A;560T>C;562C>G;589C>A;618C>G] | ||
| NM_001199954.2:c.[404C>A;421T>C;423C>G;450C>A;479C>G] | NP_001186883.1:p.[Ala135Asp;Ser141Pro;Ser141=;Gly150=;Thr160S... | |
| NM_001614.4:c.[404C>A;421T>C;423C>G;450C>A;479C>G] | NP_001605.1:p.[Ala135Asp;Ser141Pro;Ser141=;Gly150=;Thr160Ser]... | |
| NR_037688.2:n.[476C>A;493T>C;495C>G;522C>A;551C>G] | ||
| NM_001614.5:c.[404C>A;421T>C;423C>G;450C>A;479C>G] MANE Select | NP_001605.1:p.[Ala135Asp;Ser141Pro;Ser141=;Gly150=;Thr160Ser]... | |
| NR_037688.3:n.[476C>A;493T>C;495C>G;522C>A;551C>G] | ||
| NM_001199954.3:c.[404C>A;421T>C;423C>G;450C>A;479C>G] | NP_001186883.1:p.[Ala135Asp;Ser141Pro;Ser141=;Gly150=;Thr160S... |