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Canonical Allele Identifier:
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Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.[81511436A>G;81511444G>T;81511455C>G;81511457A>T;81511476G>A;81511487C>A] , CM000679.2:g.[81511436A>G;81511444G>T;81511455C>G;81511457A>T;81511476G>A;81511487C>A] | GRCh38 |
| NC_000017.10:g.[79478462A>G;79478470G>T;79478481C>G;79478483A>T;79478502G>A;79478513C>A] , CM000679.1:g.[79478462A>G;79478470G>T;79478481C>G;79478483A>T;79478502G>A;79478513C>A] | GRCh37 |
| NC_000017.9:g.[77093057A>G;77093065G>T;77093076C>G;77093078A>T;77093097G>A;77093108C>A] | NCBI36 |
| NG_011433.1:g.[6315G>T;6326C>T;6345T>A;6347G>C;6358C>A;6366T>C] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570382.2:c.[503G>T;514C>T;533T>A;535G>C;546C>A;554T>C] | ENSP00000466346.2:p.[Gly168Val;Pro172Ser;Leu178_Asp179delinsH... | |
| ENST00000571691.6:c.[431G>T;442C>T;461T>A;463G>C;474C>A;482T>C] | ENSP00000461407.2:p.[Gly144Val;Pro148Ser;Leu154_Asp155delinsH... | |
| ENST00000571721.6:c.[503G>T;514C>T;533T>A;535G>C;546C>A;554T>C] | ENSP00000460660.2:p.[Gly168Val;Pro172Ser;Leu178_Asp179delinsH... | |
| ENST00000572105.7:c.[544G>T;555C>T;574T>A;576G>C;587C>A;595T>C] | ENSP00000462823.1:p.[Ala182Ser;Ser185=;Trp192Ser;Ala196Asp;Te... | |
| ENST00000573283.7:c.[503G>T;514C>T;533T>A;535G>C;546C>A;554T>C] MANE Select | ENSP00000458435.1:p.[Gly168Val;Pro172Ser;Leu178_Asp179delinsH... | |
| ENST00000574671.6:n.[903G>T;914C>T;933T>A;935G>C;946C>A;954T>C] | ||
| ENST00000575659.6:c.[503G>T;514C>T;533T>A;535G>C;546C>A;554T>C] | ENSP00000459119.2:p.[Gly168Val;Pro172Ser;Leu178Gln;Asp179His;... | |
| ENST00000575994.6:c.[503G>T;514C>T;533T>A;535G>C;546C>A;554T>C] | ENSP00000460464.2:p.[Gly168Val;Pro172Ser;Leu178Gln;Asp179His;... | |
| ENST00000576214.3:n.[804G>T;815C>T;834T>A;836G>C;847C>A;855T>C] | ||
| ENST00000576544.6:c.[503G>T;514C>T;533T>A;535G>C;546C>A;554T>C] | ENSP00000461672.1:p.[Gly168Val;Pro172Ser;Leu178Gln;Asp179His;... | |
| ENST00000615544.5:c.[503G>T;514C>T;533T>A;535G>C;546C>A;554T>C] | ENSP00000477968.1:p.[Gly168Val;Pro172Ser;Leu178Gln;Asp179His;... | |
| ENST00000644774.2:c.[476G>T;487C>T;506T>A;508G>C;519C>A;527T>C] | ENSP00000493648.2:p.[Gly159Val;Pro163Ser;Leu169_Asp170delinsG... | |
| ENST00000679410.1:n.[627G>T;638C>T;657T>A;659G>C;670C>A;678T>C] | ||
| ENST00000679480.1:c.[503G>T;514C>T;533T>A;535G>C;546C>A;554T>C] | ENSP00000506201.1:p.[Gly168Val;Pro172Ser;Leu178Gln;Asp179His;... | |
| ENST00000679535.1:n.[804G>T;815C>T;834T>A;836G>C;847C>A;855T>C] | ||
| ENST00000679778.1:c.[503G>T;514C>T;533T>A;535G>C;546C>A;554T>C] | ENSP00000505235.1:p.[Gly168Val;Pro172Ser;Leu178Gln;Asp179His;... | |
| ENST00000680227.1:c.[503G>T;514C>T;533T>A;535G>C;546C>A;554T>C] | ENSP00000506253.1:p.[Gly168Val;Pro172Ser;Leu178_Asp179delinsH... | |
| ENST00000680727.1:c.[503G>T;514C>T;533T>A;535G>C;546C>A;554T>C] | ENSP00000505193.1:p.[Gly168Val;Pro172Ser;Leu178_Asp179delinsH... | |
| ENST00000681052.1:c.[503G>T;514C>T;533T>A;535G>C;546C>A;554T>C] | ENSP00000505060.1:p.[Gly168Val;Pro172Ser;Leu178Gln;Asp179His;... | |
| ENST00000681092.1:c.[*307G>T;*318C>T;*337T>A;*339G>C;*350C>A;*358T>C] | ENSP00000506720.1:n.[*307G>T;*318C>T;*337T>A;*339G>C;*350C>A;... | |
| ENST00000681842.1:c.[503G>T;514C>T;533T>A;535G>C;546C>A;554T>C] | ENSP00000506126.1:p.[Gly168Val;Pro172Ser;Leu178_Asp179delinsH... | |
| ENST00000331925.6:c.[503G>T;514C>T;533T>A;535G>C;546C>A;554T>C] | ENSP00000331514.2:p.[Gly168Val;Pro172Ser;Leu178_Asp179delinsH... | |
| ENST00000571691.5:c.[476G>T;487C>T;506T>A;508G>C;519C>A;527T>C] | ENSP00000461407.1:p.[Gly159Val;Pro163Ser;Leu169_Asp170delinsG... | |
| ENST00000572105.6:c.[544G>T;555C>T;574T>A;576G>C;587C>A;595T>C] | ENSP00000462823.1:p.[Ala182Ser;Ser185=;Trp192Arg;Trp192Cys;Al... | |
| ENST00000573283.5:c.[503G>T;514C>T;533T>A;535G>C;546C>A;554T>C] | ENSP00000458435.1:p.[Gly168Val;Pro172Ser;Leu178Gln;Asp179His;... | |
| ENST00000574671.5:n.[362G>T;373C>T;392T>A;394G>C;405C>A;413T>C] | ||
| ENST00000575087.5:c.[503G>T;514C>T;533T>A;535G>C;546C>A;554T>C] | ENSP00000459124.1:p.[Gly168Val;Pro172Ser;Leu178Gln;Asp179His;... | |
| ENST00000575659.5:c.[503G>T;514C>T;533T>A;535G>C;546C>A;554T>C] | ENSP00000459119.1:p.[Gly168Val;Pro172Ser;Leu178Gln;Asp179His;... | |
| ENST00000575842.5:c.[503G>T;514C>T;533T>A;535G>C;546C>A;554T>C] | ENSP00000458162.1:p.[Gly168Val;Pro172Ser;Leu178Gln;Asp179His;... | |
| ENST00000575994.5:c.[503G>T;514C>T;533T>A;535G>C;546C>A;554T>C] | ENSP00000460464.1:p.[Gly168Val;Pro172Ser;Leu178Gln;Asp179His;... | |
| ENST00000576209.5:n.[388G>T;399C>T;418T>A;420G>C;431C>A;439T>C] | ||
| ENST00000576214.2:n.[701G>T;712C>T;731T>A;733G>C;744C>A;752T>C] | ||
| ENST00000576544.5:c.[503G>T;514C>T;533T>A;535G>C;546C>A;554T>C] | ENSP00000461672.1:p.[Gly168Val;Pro172Ser;Leu178Gln;Asp179His;... | |
| ENST00000576917.5:n.[556G>T;567C>T;586T>A;588G>C;599C>A;607T>C] | ||
| ENST00000615544.4:c.[503G>T;514C>T;533T>A;535G>C;546C>A;554T>C] | ENSP00000477968.1:p.[Gly168Val;Pro172Ser;Leu178Gln;Asp179His;... | |
| NM_001199954.1:c.[503G>T;514C>T;533T>A;535G>C;546C>A;554T>C] | NP_001186883.1:p.[Gly168Val;Pro172Ser;Leu178_Asp179delinsHisH... | |
| NM_001614.3:c.[503G>T;514C>T;533T>A;535G>C;546C>A;554T>C] | NP_001605.1:p.[Gly168Val;Pro172Ser;Leu178Gln;Asp179His;Gly182... | |
| NR_037688.1:n.[642G>T;653C>T;672T>A;674G>C;685C>A;693T>C] | ||
| NM_001199954.2:c.[503G>T;514C>T;533T>A;535G>C;546C>A;554T>C] | NP_001186883.1:p.[Gly168Val;Pro172Ser;Leu178Gln;Asp179His;Gly... | |
| NM_001614.4:c.[503G>T;514C>T;533T>A;535G>C;546C>A;554T>C] | NP_001605.1:p.[Gly168Val;Pro172Ser;Leu178_Asp179delinsHisHis;... | |
| NR_037688.2:n.[575G>T;586C>T;605T>A;607G>C;618C>A;626T>C] | ||
| NM_001614.5:c.[503G>T;514C>T;533T>A;535G>C;546C>A;554T>C] MANE Select | NP_001605.1:p.[Gly168Val;Pro172Ser;Leu178_Asp179delinsHisHis;... | |
| NR_037688.3:n.[575G>T;586C>T;605T>A;607G>C;618C>A;626T>C] | ||
| NM_001199954.3:c.[503G>T;514C>T;533T>A;535G>C;546C>A;554T>C] | NP_001186883.1:p.[Gly168Val;Pro172Ser;Leu178Gln;Asp179His;Gly... |