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Canonical Allele Identifier:
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Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.[81511434T>G;81511436A>T;81511452G>T;81511489C>A] , CM000679.2:g.[81511434T>G;81511436A>T;81511452G>T;81511489C>A] | GRCh38 |
| NC_000017.10:g.[79478460T>G;79478462A>T;79478478G>T;79478515C>A] , CM000679.1:g.[79478460T>G;79478462A>T;79478478G>T;79478515C>A] | GRCh37 |
| NC_000017.9:g.[77093055T>G;77093057A>T;77093073G>T;77093110C>A] | NCBI36 |
| NG_011433.1:g.[6313G>T;6350C>A;6366T>A;6368A>C] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570382.2:c.[501G>T;538C>A;554T>A;556A>C] | ENSP00000466346.2:p.[Glu167Asp;Leu180Met;Leu185_Thr186delinsH... | |
| ENST00000571691.6:c.[429G>T;466C>A;482T>A;484A>C] | ENSP00000461407.2:p.[Glu143Asp;Leu156Met;Leu161_Thr162delinsG... | |
| ENST00000571721.6:c.[501G>T;538C>A;554T>A;556A>C] | ENSP00000460660.2:p.[Glu167Asp;Leu180Met;Leu185_Thr186delinsG... | |
| ENST00000572105.7:c.[542G>T;579C>A;595T>A;597A>C] | ENSP00000462823.1:p.[Arg181Met;Thr193=;Ter199Ile] | |
| ENST00000573283.7:c.[501G>T;538C>A;554T>A;556A>C] MANE Select | ENSP00000458435.1:p.[Glu167Asp;Leu180Met;Leu185_Thr186delinsG... | |
| ENST00000574671.6:n.[901G>T;938C>A;954T>A;956A>C] | ||
| ENST00000575659.6:c.[501G>T;538C>A;554T>A;556A>C] | ENSP00000459119.2:p.[Glu167Asp;Leu180Met;Leu185Gln;Thr186Pro]... | |
| ENST00000575994.6:c.[501G>T;538C>A;554T>A;556A>C] | ENSP00000460464.2:p.[Glu167Asp;Leu180Met;Leu185Gln;Thr186Pro]... | |
| ENST00000576214.3:n.[802G>T;839C>A;855T>A;857A>C] | ||
| ENST00000576544.6:c.[501G>T;538C>A;554T>A;556A>C] | ENSP00000461672.1:p.[Glu167Asp;Leu180Met;Leu185Gln;Thr186Pro]... | |
| ENST00000615544.5:c.[501G>T;538C>A;554T>A;556A>C] | ENSP00000477968.1:p.[Glu167Asp;Leu180Met;Leu185Gln;Thr186Pro]... | |
| ENST00000644774.2:c.[474G>T;511C>A;527T>A;529A>C] | ENSP00000493648.2:p.[Glu158Asp;Leu171Met;Leu176_Thr177delinsH... | |
| ENST00000679410.1:n.[625G>T;662C>A;678T>A;680A>C] | ||
| ENST00000679480.1:c.[501G>T;538C>A;554T>A;556A>C] | ENSP00000506201.1:p.[Glu167Asp;Leu180Met;Leu185Gln;Thr186Pro]... | |
| ENST00000679535.1:n.[802G>T;839C>A;855T>A;857A>C] | ||
| ENST00000679778.1:c.[501G>T;538C>A;554T>A;556A>C] | ENSP00000505235.1:p.[Glu167Asp;Leu180Met;Leu185Gln;Thr186Pro]... | |
| ENST00000680227.1:c.[501G>T;538C>A;554T>A;556A>C] | ENSP00000506253.1:p.[Glu167Asp;Leu180Met;Leu185_Thr186delinsH... | |
| ENST00000680727.1:c.[501G>T;538C>A;554T>A;556A>C] | ENSP00000505193.1:p.[Glu167Asp;Leu180Met;Leu185_Thr186delinsH... | |
| ENST00000681052.1:c.[501G>T;538C>A;554T>A;556A>C] | ENSP00000505060.1:p.[Glu167Asp;Leu180Met;Leu185Gln;Thr186Pro]... | |
| ENST00000681092.1:c.[*305G>T;*342C>A;*358T>A;*360A>C] | ENSP00000506720.1:n.[*305G>T;*342C>A;*358T>A;*360A>C] | |
| ENST00000681842.1:c.[501G>T;538C>A;554T>A;556A>C] | ENSP00000506126.1:p.[Glu167Asp;Leu180Met;Leu185_Thr186delinsG... | |
| ENST00000331925.6:c.[501G>T;538C>A;554T>A;556A>C] | ENSP00000331514.2:p.[Glu167Asp;Leu180Met;Leu185_Thr186delinsG... | |
| ENST00000571691.5:c.[474G>T;511C>A;527T>A;529A>C] | ENSP00000461407.1:p.[Glu158Asp;Leu171Met;Leu176_Thr177delinsH... | |
| ENST00000572105.6:c.[542G>T;579C>A;595T>A;597A>C] | ENSP00000462823.1:p.[Arg181Met;Thr193=;Ter199Arg;Ter199Cys] | |
| ENST00000573283.5:c.[501G>T;538C>A;554T>A;556A>C] | ENSP00000458435.1:p.[Glu167Asp;Leu180Met;Leu185Gln;Thr186Pro]... | |
| ENST00000574671.5:n.[360G>T;397C>A;413T>A;415A>C] | ||
| ENST00000575087.5:c.[501G>T;538C>A;554T>A;556A>C] | ENSP00000459124.1:p.[Glu167Asp;Leu180Met;Leu185Gln;Thr186Pro]... | |
| ENST00000575659.5:c.[501G>T;538C>A;554T>A;556A>C] | ENSP00000459119.1:p.[Glu167Asp;Leu180Met;Leu185Gln;Thr186Pro]... | |
| ENST00000575842.5:c.[501G>T;538C>A;554T>A;556A>C] | ENSP00000458162.1:p.[Glu167Asp;Leu180Met;Leu185Gln;Thr186Pro]... | |
| ENST00000575994.5:c.[501G>T;538C>A;554T>A;556A>C] | ENSP00000460464.1:p.[Glu167Asp;Leu180Met;Leu185Gln;Thr186Pro]... | |
| ENST00000576209.5:n.[386G>T;423C>A;439T>A;441A>C] | ||
| ENST00000576214.2:n.[699G>T;736C>A;752T>A;754A>C] | ||
| ENST00000576544.5:c.[501G>T;538C>A;554T>A;556A>C] | ENSP00000461672.1:p.[Glu167Asp;Leu180Met;Leu185Gln;Thr186Pro]... | |
| ENST00000576917.5:n.[554G>T;591C>A;607T>A;609A>C] | ||
| ENST00000615544.4:c.[501G>T;538C>A;554T>A;556A>C] | ENSP00000477968.1:p.[Glu167Asp;Leu180Met;Leu185Gln;Thr186Pro]... | |
| NM_001199954.1:c.[501G>T;538C>A;554T>A;556A>C] | NP_001186883.1:p.[Glu167Asp;Leu180Met;Leu185_Thr186delinsHisP... | |
| NM_001614.3:c.[501G>T;538C>A;554T>A;556A>C] | NP_001605.1:p.[Glu167Asp;Leu180Met;Leu185Gln;Thr186Pro] | |
| NR_037688.1:n.[640G>T;677C>A;693T>A;695A>C] | ||
| NM_001199954.2:c.[501G>T;538C>A;554T>A;556A>C] | NP_001186883.1:p.[Glu167Asp;Leu180Met;Leu185Gln;Thr186Pro] | |
| NM_001614.4:c.[501G>T;538C>A;554T>A;556A>C] | NP_001605.1:p.[Glu167Asp;Leu180Met;Leu185_Thr186delinsGlnPro]... | |
| NR_037688.2:n.[573G>T;610C>A;626T>A;628A>C] | ||
| NM_001614.5:c.[501G>T;538C>A;554T>A;556A>C] MANE Select | NP_001605.1:p.[Glu167Asp;Leu180Met;Leu185_Thr186delinsGlnPro]... | |
| NR_037688.3:n.[573G>T;610C>A;626T>A;628A>C] | ||
| NM_001199954.3:c.[501G>T;538C>A;554T>A;556A>C] | NP_001186883.1:p.[Glu167Asp;Leu180Met;Leu185Gln;Thr186Pro] |