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Canonical Allele Identifier:
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Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.[81511537A>C;81511547G>C;81511558G>C;81511569A>G;81511589A>G] , CM000679.2:g.[81511537A>C;81511547G>C;81511558G>C;81511569A>G;81511589A>G] | GRCh38 |
| NC_000017.10:g.[79478563A>C;79478573G>C;79478584G>C;79478595A>G;79478615A>G] , CM000679.1:g.[79478563A>C;79478573G>C;79478584G>C;79478595A>G;79478615A>G] | GRCh37 |
| NC_000017.9:g.[77093158A>C;77093168G>C;77093179G>C;77093190A>G;77093210A>G] | NCBI36 |
| NG_011433.1:g.[6213T>C;6233T>C;6244C>G;6255C>G;6265T>G] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570382.2:c.[401T>C;421T>C;432C>G;443C>G;453T>G] | ENSP00000466346.2:p.[Val134Ala;Ser141Pro;Ala144=;Thr148Ser;Il... | |
| ENST00000571691.6:c.[340-11T>C;349T>C;360C>G;371C>G;381T>G] | ENSP00000461407.2:p.[Ser117Pro;Ala120=;Thr124Ser;Ile127Met] | |
| ENST00000571721.6:c.[401T>C;421T>C;432C>G;443C>G;453T>G] | ENSP00000460660.2:p.[Val134Ala;Ser141Pro;Ala144=;Thr148Ser;Il... | |
| ENST00000572105.7:c.[442T>C;462T>C;473C>G;484C>G;494T>G] | ENSP00000462823.1:p.[Trp148Arg;Cys154=;Pro158Arg;Pro162Ala;Le... | |
| ENST00000573283.7:c.[401T>C;421T>C;432C>G;443C>G;453T>G] MANE Select | ENSP00000458435.1:p.[Val134Ala;Ser141Pro;Ala144=;Thr148Ser;Il... | |
| ENST00000574671.6:n.[801T>C;821T>C;832C>G;843C>G;853T>G] | ||
| ENST00000575659.6:c.[401T>C;421T>C;432C>G;443C>G;453T>G] | ENSP00000459119.2:p.[Val134Ala;Ser141Pro;Ala144=;Thr148Ser;Il... | |
| ENST00000575994.6:c.[401T>C;421T>C;432C>G;443C>G;453T>G] | ENSP00000460464.2:p.[Val134Ala;Ser141Pro;Ala144=;Thr148Ser;Il... | |
| ENST00000576214.3:n.[702T>C;722T>C;733C>G;744C>G;754T>G] | ||
| ENST00000576544.6:c.[401T>C;421T>C;432C>G;443C>G;453T>G] | ENSP00000461672.1:p.[Val134Ala;Ser141Pro;Ala144=;Thr148Ser;Il... | |
| ENST00000615544.5:c.[401T>C;421T>C;432C>G;443C>G;453T>G] | ENSP00000477968.1:p.[Val134Ala;Ser141Pro;Ala144=;Thr148Ser;Il... | |
| ENST00000644774.2:c.[374T>C;394T>C;405C>G;416C>G;426T>G] | ENSP00000493648.2:p.[Val125Ala;Ser132Pro;Ala135=;Thr139Ser;Il... | |
| ENST00000679410.1:n.[525T>C;545T>C;556C>G;567C>G;577T>G] | ||
| ENST00000679480.1:c.[401T>C;421T>C;432C>G;443C>G;453T>G] | ENSP00000506201.1:p.[Val134Ala;Ser141Pro;Ala144=;Thr148Ser;Il... | |
| ENST00000679535.1:n.[702T>C;722T>C;733C>G;744C>G;754T>G] | ||
| ENST00000679778.1:c.[401T>C;421T>C;432C>G;443C>G;453T>G] | ENSP00000505235.1:p.[Val134Ala;Ser141Pro;Ala144=;Thr148Ser;Il... | |
| ENST00000680227.1:c.[401T>C;421T>C;432C>G;443C>G;453T>G] | ENSP00000506253.1:p.[Val134Ala;Ser141Pro;Ala144=;Thr148Ser;Il... | |
| ENST00000680727.1:c.[401T>C;421T>C;432C>G;443C>G;453T>G] | ENSP00000505193.1:p.[Val134Ala;Ser141Pro;Ala144=;Thr148Ser;Il... | |
| ENST00000681052.1:c.[401T>C;421T>C;432C>G;443C>G;453T>G] | ENSP00000505060.1:p.[Val134Ala;Ser141Pro;Ala144=;Thr148Ser;Il... | |
| ENST00000681092.1:c.[*205T>C;*225T>C;*236C>G;*247C>G;*257T>G] | ENSP00000506720.1:n.[*205T>C;*225T>C;*236C>G;*247C>G;*257T>G]... | |
| ENST00000681842.1:c.[401T>C;421T>C;432C>G;443C>G;453T>G] | ENSP00000506126.1:p.[Val134Ala;Ser141Pro;Ala144=;Thr148Ser;Il... | |
| ENST00000331925.6:c.[401T>C;421T>C;432C>G;443C>G;453T>G] | ENSP00000331514.2:p.[Val134Ala;Ser141Pro;Ala144=;Thr148Ser;Il... | |
| ENST00000570382.1:c.[340-11T>C;349T>C;360C>G;371C>G;381T>G] | ENSP00000466346.1:p.[Ser117Pro;Ala120=;Thr124Ser;Ile127Met] | |
| ENST00000571691.5:c.[374T>C;394T>C;405C>G;416C>G;426T>G] | ENSP00000461407.1:p.[Val125Ala;Ser132Pro;Ala135=;Thr139Ser;Il... | |
| ENST00000571721.5:c.[401T>C;421T>C;432C>G;443C>G;453T>G] | ENSP00000460660.1:p.[Val134Ala;Ser141Pro;Ala144=;Thr148Ser;Il... | |
| ENST00000572105.6:c.[442T>C;462T>C;473C>G;484C>G;494T>G] | ENSP00000462823.1:p.[Trp148Arg;Cys154=;Pro158Arg;Pro162Ala;Le... | |
| ENST00000573283.5:c.[401T>C;421T>C;432C>G;443C>G;453T>G] | ENSP00000458435.1:p.[Val134Ala;Ser141Pro;Ala144=;Thr148Ser;Il... | |
| ENST00000574671.5:n.[260T>C;280T>C;291C>G;302C>G;312T>G] | ||
| ENST00000575087.5:c.[401T>C;421T>C;432C>G;443C>G;453T>G] | ENSP00000459124.1:p.[Val134Ala;Ser141Pro;Ala144=;Thr148Ser;Il... | |
| ENST00000575659.5:c.[401T>C;421T>C;432C>G;443C>G;453T>G] | ENSP00000459119.1:p.[Val134Ala;Ser141Pro;Ala144=;Thr148Ser;Il... | |
| ENST00000575842.5:c.[401T>C;421T>C;432C>G;443C>G;453T>G] | ENSP00000458162.1:p.[Val134Ala;Ser141Pro;Ala144=;Thr148Ser;Il... | |
| ENST00000575994.5:c.[401T>C;421T>C;432C>G;443C>G;453T>G] | ENSP00000460464.1:p.[Val134Ala;Ser141Pro;Ala144=;Thr148Ser;Il... | |
| ENST00000576209.5:n.[286T>C;306T>C;317C>G;328C>G;338T>G] | ||
| ENST00000576214.2:n.[599T>C;619T>C;630C>G;641C>G;651T>G] | ||
| ENST00000576544.5:c.[401T>C;421T>C;432C>G;443C>G;453T>G] | ENSP00000461672.1:p.[Val134Ala;Ser141Pro;Ala144=;Thr148Ser;Il... | |
| ENST00000576917.5:n.[454T>C;474T>C;485C>G;496C>G;506T>G] | ||
| ENST00000615544.4:c.[401T>C;421T>C;432C>G;443C>G;453T>G] | ENSP00000477968.1:p.[Val134Ala;Ser141Pro;Ala144=;Thr148Ser;Il... | |
| NM_001199954.1:c.[401T>C;421T>C;432C>G;443C>G;453T>G] | NP_001186883.1:p.[Val134Ala;Ser141Pro;Ala144=;Thr148Ser;Ile15... | |
| NM_001614.3:c.[401T>C;421T>C;432C>G;443C>G;453T>G] | NP_001605.1:p.[Val134Ala;Ser141Pro;Ala144=;Thr148Ser;Ile151Me... | |
| NR_037688.1:n.[540T>C;560T>C;571C>G;582C>G;592T>G] | ||
| NM_001199954.2:c.[401T>C;421T>C;432C>G;443C>G;453T>G] | NP_001186883.1:p.[Val134Ala;Ser141Pro;Ala144=;Thr148Ser;Ile15... | |
| NM_001614.4:c.[401T>C;421T>C;432C>G;443C>G;453T>G] | NP_001605.1:p.[Val134Ala;Ser141Pro;Ala144=;Thr148Ser;Ile151Me... | |
| NR_037688.2:n.[473T>C;493T>C;504C>G;515C>G;525T>G] | ||
| NM_001614.5:c.[401T>C;421T>C;432C>G;443C>G;453T>G] MANE Select | NP_001605.1:p.[Val134Ala;Ser141Pro;Ala144=;Thr148Ser;Ile151Me... | |
| NR_037688.3:n.[473T>C;493T>C;504C>G;515C>G;525T>G] | ||
| NM_001199954.3:c.[401T>C;421T>C;432C>G;443C>G;453T>G] | NP_001186883.1:p.[Val134Ala;Ser141Pro;Ala144=;Thr148Ser;Ile15... |