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.[81511540G>T;81511542C>T;81511579C>T;81511607T>G] , CM000679.2:g.[81511540G>T;81511542C>T;81511579C>T;81511607T>G] | GRCh38 |
| NC_000017.10:g.[79478566G>T;79478568C>T;79478605C>T;79478633T>G] , CM000679.1:g.[79478566G>T;79478568C>T;79478605C>T;79478633T>G] | GRCh37 |
| NC_000017.9:g.[77093161G>T;77093163C>T;77093200C>T;77093228T>G] | NCBI36 |
| NG_011433.1:g.[6195A>C;6223G>A;6260G>A;6262C>A] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570382.2:c.[383A>C;411G>A;448G>A;450C>A] | ENSP00000466346.2:p.[Asn128Thr;Gln137=;Gly150Ser;Gly150=] | |
| ENST00000571691.6:c.[340-29A>C;340-1G>A;376G>A;378C>A] | ENSP00000461407.2:p.[Gly126Ser;Gly126=] | |
| ENST00000571721.6:c.[383A>C;411G>A;448G>A;450C>A] | ENSP00000460660.2:p.[Asn128Thr;Gln137=;Gly150Ser;Gly150=] | |
| ENST00000572105.7:c.[424A>C;452G>A;489G>A;491C>A] | ENSP00000462823.1:p.[Thr142Pro;Arg151Lys;Leu163=;Ala164Glu] | |
| ENST00000573283.7:c.[383A>C;411G>A;448G>A;450C>A] MANE Select | ENSP00000458435.1:p.[Asn128Thr;Gln137=;Gly150Ser;Gly150=] | |
| ENST00000574671.6:n.[783A>C;811G>A;848G>A;850C>A] | ||
| ENST00000575659.6:c.[383A>C;411G>A;448G>A;450C>A] | ENSP00000459119.2:p.[Asn128Thr;Gln137=;Gly150Ile] | |
| ENST00000575994.6:c.[383A>C;411G>A;448G>A;450C>A] | ENSP00000460464.2:p.[Asn128Thr;Gln137=;Gly150Ser;Gly150=] | |
| ENST00000576214.3:n.[684A>C;712G>A;749G>A;751C>A] | ||
| ENST00000576544.6:c.[383A>C;411G>A;448G>A;450C>A] | ENSP00000461672.1:p.[Asn128Thr;Gln137=;Gly150Arg] | |
| ENST00000615544.5:c.[383A>C;411G>A;448G>A;450C>A] | ENSP00000477968.1:p.[Asn128Thr;Gln137=;Gly150Ser;Gly150=] | |
| ENST00000644774.2:c.[356A>C;384G>A;421G>A;423C>A] | ENSP00000493648.2:p.[Asn119Thr;Gln128=;Gly141Ser;Gly141=] | |
| ENST00000679410.1:n.[507A>C;535G>A;572G>A;574C>A] | ||
| ENST00000679480.1:c.[383A>C;411G>A;448G>A;450C>A] | ENSP00000506201.1:p.[Asn128Thr;Gln137=;Gly150Ser;Gly150=] | |
| ENST00000679535.1:n.[684A>C;712G>A;749G>A;751C>A] | ||
| ENST00000679778.1:c.[383A>C;411G>A;448G>A;450C>A] | ENSP00000505235.1:p.[Asn128Thr;Gln137=;Gly150Thr] | |
| ENST00000680227.1:c.[383A>C;411G>A;448G>A;450C>A] | ENSP00000506253.1:p.[Asn128Thr;Gln137=;Gly150Ser;Gly150=] | |
| ENST00000680727.1:c.[383A>C;411G>A;448G>A;450C>A] | ENSP00000505193.1:p.[Asn128Thr;Gln137=;Gly150Ser;Gly150=] | |
| ENST00000681052.1:c.[383A>C;411G>A;448G>A;450C>A] | ENSP00000505060.1:p.[Asn128Thr;Gln137=;Gly150Ser;Gly150=] | |
| ENST00000681092.1:c.[*187A>C;*215G>A;*252G>A;*254C>A] | ENSP00000506720.1:n.[*187A>C;*215G>A;*252G>A;*254C>A] | |
| ENST00000681842.1:c.[383A>C;411G>A;448G>A;450C>A] | ENSP00000506126.1:p.[Asn128Thr;Gln137=;Gly150Ser;Gly150=] | |
| ENST00000331925.6:c.[383A>C;411G>A;448G>A;450C>A] | ENSP00000331514.2:p.[Asn128Thr;Gln137=;Gly150Ser;Gly150=] | |
| ENST00000570382.1:c.[340-29A>C;340-1G>A;376G>A;378C>A] | ENSP00000466346.1:p.[Gly126Ser;Gly126=] | |
| ENST00000571691.5:c.[356A>C;384G>A;421G>A;423C>A] | ENSP00000461407.1:p.[Asn119Thr;Gln128=;Gly141Ser;Gly141=] | |
| ENST00000571721.5:c.[383A>C;411G>A;448G>A;450C>A] | ENSP00000460660.1:p.[Asn128Thr;Gln137=;Gly150Ser;Gly150=] | |
| ENST00000572105.6:c.[424A>C;452G>A;489G>A;491C>A] | ENSP00000462823.1:p.[Thr142Pro;Arg151Lys;Leu163=;Ala164Glu] | |
| ENST00000573283.5:c.[383A>C;411G>A;448G>A;450C>A] | ENSP00000458435.1:p.[Asn128Thr;Gln137=;Gly150Lys] | |
| ENST00000574671.5:n.[242A>C;270G>A;307G>A;309C>A] | ||
| ENST00000575087.5:c.[383A>C;411G>A;448G>A;450C>A] | ENSP00000459124.1:p.[Asn128Thr;Gln137=;Gly150Ser;Gly150=] | |
| ENST00000575659.5:c.[383A>C;411G>A;448G>A;450C>A] | ENSP00000459119.1:p.[Asn128Thr;Gln137=;Gly150Ile] | |
| ENST00000575842.5:c.[383A>C;411G>A;448G>A;450C>A] | ENSP00000458162.1:p.[Asn128Thr;Gln137=;Gly150Ile] | |
| ENST00000575994.5:c.[383A>C;411G>A;448G>A;450C>A] | ENSP00000460464.1:p.[Asn128Thr;Gln137=;Gly150Ser;Gly150=] | |
| ENST00000576209.5:n.[268A>C;296G>A;333G>A;335C>A] | ||
| ENST00000576214.2:n.[581A>C;609G>A;646G>A;648C>A] | ||
| ENST00000576544.5:c.[383A>C;411G>A;448G>A;450C>A] | ENSP00000461672.1:p.[Asn128Thr;Gln137=;Gly150Arg] | |
| ENST00000576917.5:n.[436A>C;464G>A;501G>A;503C>A] | ||
| ENST00000615544.4:c.[383A>C;411G>A;448G>A;450C>A] | ENSP00000477968.1:p.[Asn128Thr;Gln137=;Gly150Arg] | |
| NM_001199954.1:c.[383A>C;411G>A;448G>A;450C>A] | NP_001186883.1:p.[Asn128Thr;Gln137=;Gly150Ser;Gly150=] | |
| NM_001614.3:c.[383A>C;411G>A;448G>A;450C>A] | NP_001605.1:p.[Asn128Thr;Gln137=;Gly150Arg] | |
| NR_037688.1:n.[522A>C;550G>A;587G>A;589C>A] | ||
| NM_001199954.2:c.[383A>C;411G>A;448G>A;450C>A] | NP_001186883.1:p.[Asn128Thr;Gln137=;Gly150Ser;Gly150=] | |
| NM_001614.4:c.[383A>C;411G>A;448G>A;450C>A] | NP_001605.1:p.[Asn128Thr;Gln137=;Gly150Ser;Gly150=] | |
| NR_037688.2:n.[455A>C;483G>A;520G>A;522C>A] | ||
| NM_001614.5:c.[383A>C;411G>A;448G>A;450C>A] MANE Select | NP_001605.1:p.[Asn128Thr;Gln137=;Gly150Ser;Gly150=] | |
| NR_037688.3:n.[455A>C;483G>A;520G>A;522C>A] | ||
| NM_001199954.3:c.[383A>C;411G>A;448G>A;450C>A] | NP_001186883.1:p.[Asn128Thr;Gln137=;Gly150Ser;Gly150=] |