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.[81511544G>C;81511582G>T;81511587C>A;81511589A>T;81511599C>T;81511610A>C] , CM000679.2:g.[81511544G>C;81511582G>T;81511587C>A;81511589A>T;81511599C>T;81511610A>C] | GRCh38 |
| NC_000017.10:g.[79478570G>C;79478608G>T;79478613C>A;79478615A>T;79478625C>T;79478636A>C] , CM000679.1:g.[79478570G>C;79478608G>T;79478613C>A;79478615A>T;79478625C>T;79478636A>C] | GRCh37 |
| NC_000017.9:g.[77093165G>C;77093203G>T;77093208C>A;77093210A>T;77093220C>T;77093231A>C] | NCBI36 |
| NG_011433.1:g.[6192T>G;6203G>A;6213T>A;6215G>T;6220C>A;6258C>G] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570382.2:c.[380T>G;391G>A;401T>A;403G>T;408C>A;446C>G] | ENSP00000466346.2:p.[Phe127Cys;Ala131Thr;Val134_Ala135delinsA... | |
| ENST00000571691.6:c.[340-32T>G;340-21G>A;340-11T>A;340-9G>T;340-4C>A;374C>G] | ENSP00000461407.2:p.Thr125Ser | |
| ENST00000571721.6:c.[380T>G;391G>A;401T>A;403G>T;408C>A;446C>G] | ENSP00000460660.2:p.[Phe127Cys;Ala131Thr;Val134_Ala135delinsA... | |
| ENST00000572105.7:c.[421T>G;432G>A;442T>A;444G>T;449C>A;487C>G] | ENSP00000462823.1:p.[Ser141Ala;Arg144=;Trp148Ser;Ser150Tyr;Le... | |
| ENST00000573283.7:c.[380T>G;391G>A;401T>A;403G>T;408C>A;446C>G] MANE Select | ENSP00000458435.1:p.[Phe127Cys;Ala131Thr;Val134_Ala135delinsA... | |
| ENST00000574671.6:n.[780T>G;791G>A;801T>A;803G>T;808C>A;846C>G] | ||
| ENST00000575659.6:c.[380T>G;391G>A;401T>A;403G>T;408C>A;446C>G] | ENSP00000459119.2:p.[Phe127Cys;Ala131Thr;Val134Glu;Ala135Ser;... | |
| ENST00000575994.6:c.[380T>G;391G>A;401T>A;403G>T;408C>A;446C>G] | ENSP00000460464.2:p.[Phe127Cys;Ala131Thr;Val134Glu;Ala135Ser;... | |
| ENST00000576214.3:n.[681T>G;692G>A;702T>A;704G>T;709C>A;747C>G] | ||
| ENST00000576544.6:c.[380T>G;391G>A;401T>A;403G>T;408C>A;446C>G] | ENSP00000461672.1:p.[Phe127Cys;Ala131Thr;Val134Glu;Ala135Ser;... | |
| ENST00000615544.5:c.[380T>G;391G>A;401T>A;403G>T;408C>A;446C>G] | ENSP00000477968.1:p.[Phe127Cys;Ala131Thr;Val134Glu;Ala135Ser;... | |
| ENST00000644774.2:c.[353T>G;364G>A;374T>A;376G>T;381C>A;419C>G] | ENSP00000493648.2:p.[Phe118Cys;Ala122Thr;Val125_Ala126delinsA... | |
| ENST00000679410.1:n.[504T>G;515G>A;525T>A;527G>T;532C>A;570C>G] | ||
| ENST00000679480.1:c.[380T>G;391G>A;401T>A;403G>T;408C>A;446C>G] | ENSP00000506201.1:p.[Phe127Cys;Ala131Thr;Val134Glu;Ala135Ser;... | |
| ENST00000679535.1:n.[681T>G;692G>A;702T>A;704G>T;709C>A;747C>G] | ||
| ENST00000679778.1:c.[380T>G;391G>A;401T>A;403G>T;408C>A;446C>G] | ENSP00000505235.1:p.[Phe127Cys;Ala131Thr;Val134Glu;Ala135Ser;... | |
| ENST00000680227.1:c.[380T>G;391G>A;401T>A;403G>T;408C>A;446C>G] | ENSP00000506253.1:p.[Phe127Cys;Ala131Thr;Val134_Ala135delinsA... | |
| ENST00000680727.1:c.[380T>G;391G>A;401T>A;403G>T;408C>A;446C>G] | ENSP00000505193.1:p.[Phe127Cys;Ala131Thr;Val134_Ala135delinsA... | |
| ENST00000681052.1:c.[380T>G;391G>A;401T>A;403G>T;408C>A;446C>G] | ENSP00000505060.1:p.[Phe127Cys;Ala131Thr;Val134Glu;Ala135Ser;... | |
| ENST00000681092.1:c.[*184T>G;*195G>A;*205T>A;*207G>T;*212C>A;*250C>G] | ENSP00000506720.1:n.[*184T>G;*195G>A;*205T>A;*207G>T;*212C>A;... | |
| ENST00000681842.1:c.[380T>G;391G>A;401T>A;403G>T;408C>A;446C>G] | ENSP00000506126.1:p.[Phe127Cys;Ala131Thr;Val134_Ala135delinsA... | |
| ENST00000331925.6:c.[380T>G;391G>A;401T>A;403G>T;408C>A;446C>G] | ENSP00000331514.2:p.[Phe127Cys;Ala131Thr;Val134_Ala135delinsA... | |
| ENST00000570382.1:c.[340-32T>G;340-21G>A;340-11T>A;340-9G>T;340-4C>A;374C>G] | ENSP00000466346.1:p.Thr125Ser | |
| ENST00000571691.5:c.[353T>G;364G>A;374T>A;376G>T;381C>A;419C>G] | ENSP00000461407.1:p.[Phe118Cys;Ala122Thr;Val125_Ala126delinsA... | |
| ENST00000571721.5:c.[380T>G;391G>A;401T>A;403G>T;408C>A;446C>G] | ENSP00000460660.1:p.[Phe127Cys;Ala131Thr;Val134_Ala135delinsA... | |
| ENST00000572105.6:c.[421T>G;432G>A;442T>A;444G>T;449C>A;487C>G] | ENSP00000462823.1:p.[Ser141Ala;Arg144=;Trp148Arg;Trp148Cys;Se... | |
| ENST00000573283.5:c.[380T>G;391G>A;401T>A;403G>T;408C>A;446C>G] | ENSP00000458435.1:p.[Phe127Cys;Ala131Thr;Val134Glu;Ala135Ser;... | |
| ENST00000574671.5:n.[239T>G;250G>A;260T>A;262G>T;267C>A;305C>G] | ||
| ENST00000575087.5:c.[380T>G;391G>A;401T>A;403G>T;408C>A;446C>G] | ENSP00000459124.1:p.[Phe127Cys;Ala131Thr;Val134Glu;Ala135Ser;... | |
| ENST00000575659.5:c.[380T>G;391G>A;401T>A;403G>T;408C>A;446C>G] | ENSP00000459119.1:p.[Phe127Cys;Ala131Thr;Val134Glu;Ala135Ser;... | |
| ENST00000575842.5:c.[380T>G;391G>A;401T>A;403G>T;408C>A;446C>G] | ENSP00000458162.1:p.[Phe127Cys;Ala131Thr;Val134Glu;Ala135Ser;... | |
| ENST00000575994.5:c.[380T>G;391G>A;401T>A;403G>T;408C>A;446C>G] | ENSP00000460464.1:p.[Phe127Cys;Ala131Thr;Val134Glu;Ala135Ser;... | |
| ENST00000576209.5:n.[265T>G;276G>A;286T>A;288G>T;293C>A;331C>G] | ||
| ENST00000576214.2:n.[578T>G;589G>A;599T>A;601G>T;606C>A;644C>G] | ||
| ENST00000576544.5:c.[380T>G;391G>A;401T>A;403G>T;408C>A;446C>G] | ENSP00000461672.1:p.[Phe127Cys;Ala131Thr;Val134Glu;Ala135Ser;... | |
| ENST00000576917.5:n.[433T>G;444G>A;454T>A;456G>T;461C>A;499C>G] | ||
| ENST00000615544.4:c.[380T>G;391G>A;401T>A;403G>T;408C>A;446C>G] | ENSP00000477968.1:p.[Phe127Cys;Ala131Thr;Val134Glu;Ala135Ser;... | |
| NM_001199954.1:c.[380T>G;391G>A;401T>A;403G>T;408C>A;446C>G] | NP_001186883.1:p.[Phe127Cys;Ala131Thr;Val134_Ala135delinsAspS... | |
| NM_001614.3:c.[380T>G;391G>A;401T>A;403G>T;408C>A;446C>G] | NP_001605.1:p.[Phe127Cys;Ala131Thr;Val134Glu;Ala135Ser;Ile136... | |
| NR_037688.1:n.[519T>G;530G>A;540T>A;542G>T;547C>A;585C>G] | ||
| NM_001199954.2:c.[380T>G;391G>A;401T>A;403G>T;408C>A;446C>G] | NP_001186883.1:p.[Phe127Cys;Ala131Thr;Val134Glu;Ala135Ser;Ile... | |
| NM_001614.4:c.[380T>G;391G>A;401T>A;403G>T;408C>A;446C>G] | NP_001605.1:p.[Phe127Cys;Ala131Thr;Val134_Ala135delinsAspSer;... | |
| NR_037688.2:n.[452T>G;463G>A;473T>A;475G>T;480C>A;518C>G] | ||
| NM_001614.5:c.[380T>G;391G>A;401T>A;403G>T;408C>A;446C>G] MANE Select | NP_001605.1:p.[Phe127Cys;Ala131Thr;Val134_Ala135delinsAspSer;... | |
| NR_037688.3:n.[452T>G;463G>A;473T>A;475G>T;480C>A;518C>G] | ||
| NM_001199954.3:c.[380T>G;391G>A;401T>A;403G>T;408C>A;446C>G] | NP_001186883.1:p.[Phe127Cys;Ala131Thr;Val134Glu;Ala135Ser;Ile... |