This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier:
Get Identifier
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.[81511436A>T;81511449C>G;81511451A>T;81511485A>C;81511488C>G] , CM000679.2:g.[81511436A>T;81511449C>G;81511451A>T;81511485A>C;81511488C>G] | GRCh38 |
| NC_000017.10:g.[79478462A>T;79478475C>G;79478477A>T;79478511A>C;79478514C>G] , CM000679.1:g.[79478462A>T;79478475C>G;79478477A>T;79478511A>C;79478514C>G] | GRCh37 |
| NC_000017.9:g.[77093057A>T;77093070C>G;77093072A>T;77093106A>C;77093109C>G] | NCBI36 |
| NG_011433.1:g.[6314G>C;6317T>G;6351T>A;6353G>C;6366T>A] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570382.2:c.[502G>C;505T>G;539T>A;541G>C;554T>A] | ENSP00000466346.2:p.[Gly168Arg;Tyr169Asp;Leu180_Ala181delinsH... | |
| ENST00000571691.6:c.[430G>C;433T>G;467T>A;469G>C;482T>A] | ENSP00000461407.2:p.[Gly144Arg;Tyr145Asp;Leu156_Ala157delinsH... | |
| ENST00000571721.6:c.[502G>C;505T>G;539T>A;541G>C;554T>A] | ENSP00000460660.2:p.[Gly168Arg;Tyr169Asp;Leu180_Ala181delinsG... | |
| ENST00000572105.7:c.[543G>C;546T>G;580T>A;582G>C;595T>A] | ENSP00000462823.1:p.[Arg181Ser;Ala182=;Trp194Ile;Ter199Arg] | |
| ENST00000573283.7:c.[502G>C;505T>G;539T>A;541G>C;554T>A] MANE Select | ENSP00000458435.1:p.[Gly168Arg;Tyr169Asp;Leu180_Ala181delinsG... | |
| ENST00000574671.6:n.[902G>C;905T>G;939T>A;941G>C;954T>A] | ||
| ENST00000575659.6:c.[502G>C;505T>G;539T>A;541G>C;554T>A] | ENSP00000459119.2:p.[Gly168Arg;Tyr169Asp;Leu180Gln;Ala181Pro;... | |
| ENST00000575994.6:c.[502G>C;505T>G;539T>A;541G>C;554T>A] | ENSP00000460464.2:p.[Gly168Arg;Tyr169Asp;Leu180Gln;Ala181Pro;... | |
| ENST00000576214.3:n.[803G>C;806T>G;840T>A;842G>C;855T>A] | ||
| ENST00000576544.6:c.[502G>C;505T>G;539T>A;541G>C;554T>A] | ENSP00000461672.1:p.[Gly168Arg;Tyr169Asp;Leu180Gln;Ala181Pro;... | |
| ENST00000615544.5:c.[502G>C;505T>G;539T>A;541G>C;554T>A] | ENSP00000477968.1:p.[Gly168Arg;Tyr169Asp;Leu180Gln;Ala181Pro;... | |
| ENST00000644774.2:c.[475G>C;478T>G;512T>A;514G>C;527T>A] | ENSP00000493648.2:p.[Gly159Arg;Tyr160Asp;Leu171_Ala172delinsG... | |
| ENST00000679410.1:n.[626G>C;629T>G;663T>A;665G>C;678T>A] | ||
| ENST00000679480.1:c.[502G>C;505T>G;539T>A;541G>C;554T>A] | ENSP00000506201.1:p.[Gly168Arg;Tyr169Asp;Leu180Gln;Ala181Pro;... | |
| ENST00000679535.1:n.[803G>C;806T>G;840T>A;842G>C;855T>A] | ||
| ENST00000679778.1:c.[502G>C;505T>G;539T>A;541G>C;554T>A] | ENSP00000505235.1:p.[Gly168Arg;Tyr169Asp;Leu180Gln;Ala181Pro;... | |
| ENST00000680227.1:c.[502G>C;505T>G;539T>A;541G>C;554T>A] | ENSP00000506253.1:p.[Gly168Arg;Tyr169Asp;Leu180_Ala181delinsH... | |
| ENST00000680727.1:c.[502G>C;505T>G;539T>A;541G>C;554T>A] | ENSP00000505193.1:p.[Gly168Arg;Tyr169Asp;Leu180_Ala181delinsH... | |
| ENST00000681052.1:c.[502G>C;505T>G;539T>A;541G>C;554T>A] | ENSP00000505060.1:p.[Gly168Arg;Tyr169Asp;Leu180Gln;Ala181Pro;... | |
| ENST00000681092.1:c.[*306G>C;*309T>G;*343T>A;*345G>C;*358T>A] | ENSP00000506720.1:n.[*306G>C;*309T>G;*343T>A;*345G>C;*358T>A]... | |
| ENST00000681842.1:c.[502G>C;505T>G;539T>A;541G>C;554T>A] | ENSP00000506126.1:p.[Gly168Arg;Tyr169Asp;Leu180_Ala181delinsG... | |
| ENST00000331925.6:c.[502G>C;505T>G;539T>A;541G>C;554T>A] | ENSP00000331514.2:p.[Gly168Arg;Tyr169Asp;Leu180_Ala181delinsG... | |
| ENST00000571691.5:c.[475G>C;478T>G;512T>A;514G>C;527T>A] | ENSP00000461407.1:p.[Gly159Arg;Tyr160Asp;Leu171_Ala172delinsG... | |
| ENST00000572105.6:c.[543G>C;546T>G;580T>A;582G>C;595T>A] | ENSP00000462823.1:p.[Arg181Ser;Ala182=;Trp194Arg;Trp194Cys;Te... | |
| ENST00000573283.5:c.[502G>C;505T>G;539T>A;541G>C;554T>A] | ENSP00000458435.1:p.[Gly168Arg;Tyr169Asp;Leu180Gln;Ala181Pro;... | |
| ENST00000574671.5:n.[361G>C;364T>G;398T>A;400G>C;413T>A] | ||
| ENST00000575087.5:c.[502G>C;505T>G;539T>A;541G>C;554T>A] | ENSP00000459124.1:p.[Gly168Arg;Tyr169Asp;Leu180Gln;Ala181Pro;... | |
| ENST00000575659.5:c.[502G>C;505T>G;539T>A;541G>C;554T>A] | ENSP00000459119.1:p.[Gly168Arg;Tyr169Asp;Leu180Gln;Ala181Pro;... | |
| ENST00000575842.5:c.[502G>C;505T>G;539T>A;541G>C;554T>A] | ENSP00000458162.1:p.[Gly168Arg;Tyr169Asp;Leu180Gln;Ala181Pro;... | |
| ENST00000575994.5:c.[502G>C;505T>G;539T>A;541G>C;554T>A] | ENSP00000460464.1:p.[Gly168Arg;Tyr169Asp;Leu180Gln;Ala181Pro;... | |
| ENST00000576209.5:n.[387G>C;390T>G;424T>A;426G>C;439T>A] | ||
| ENST00000576214.2:n.[700G>C;703T>G;737T>A;739G>C;752T>A] | ||
| ENST00000576544.5:c.[502G>C;505T>G;539T>A;541G>C;554T>A] | ENSP00000461672.1:p.[Gly168Arg;Tyr169Asp;Leu180Gln;Ala181Pro;... | |
| ENST00000576917.5:n.[555G>C;558T>G;592T>A;594G>C;607T>A] | ||
| ENST00000615544.4:c.[502G>C;505T>G;539T>A;541G>C;554T>A] | ENSP00000477968.1:p.[Gly168Arg;Tyr169Asp;Leu180Gln;Ala181Pro;... | |
| NM_001199954.1:c.[502G>C;505T>G;539T>A;541G>C;554T>A] | NP_001186883.1:p.[Gly168Arg;Tyr169Asp;Leu180_Ala181delinsHisP... | |
| NM_001614.3:c.[502G>C;505T>G;539T>A;541G>C;554T>A] | NP_001605.1:p.[Gly168Arg;Tyr169Asp;Leu180Gln;Ala181Pro;Leu185... | |
| NR_037688.1:n.[641G>C;644T>G;678T>A;680G>C;693T>A] | ||
| NM_001199954.2:c.[502G>C;505T>G;539T>A;541G>C;554T>A] | NP_001186883.1:p.[Gly168Arg;Tyr169Asp;Leu180Gln;Ala181Pro;Leu... | |
| NM_001614.4:c.[502G>C;505T>G;539T>A;541G>C;554T>A] | NP_001605.1:p.[Gly168Arg;Tyr169Asp;Leu180_Ala181delinsGlnPro;... | |
| NR_037688.2:n.[574G>C;577T>G;611T>A;613G>C;626T>A] | ||
| NM_001614.5:c.[502G>C;505T>G;539T>A;541G>C;554T>A] MANE Select | NP_001605.1:p.[Gly168Arg;Tyr169Asp;Leu180_Ala181delinsGlnPro;... | |
| NR_037688.3:n.[574G>C;577T>G;611T>A;613G>C;626T>A] | ||
| NM_001199954.3:c.[502G>C;505T>G;539T>A;541G>C;554T>A] | NP_001186883.1:p.[Gly168Arg;Tyr169Asp;Leu180Gln;Ala181Pro;Leu... |