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.[81511455C>G;81511457A>T;81511461G>A;81511472T>G] , CM000679.2:g.[81511455C>G;81511457A>T;81511461G>A;81511472T>G] | GRCh38 |
| NC_000017.10:g.[79478481C>G;79478483A>T;79478487G>A;79478498T>G] , CM000679.1:g.[79478481C>G;79478483A>T;79478487G>A;79478498T>G] | GRCh37 |
| NC_000017.9:g.[77093076C>G;77093078A>T;77093082G>A;77093093T>G] | NCBI36 |
| NG_011433.1:g.[6330A>C;6341C>T;6345T>A;6347G>C] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570382.2:c.[518A>C;529C>T;533T>A;535G>C] | ENSP00000466346.2:p.[His173Pro;Arg177Cys;Leu178_Asp179delinsH... | |
| ENST00000571691.6:c.[446A>C;457C>T;461T>A;463G>C] | ENSP00000461407.2:p.[His149Pro;Arg153Cys;Leu154_Asp155delinsH... | |
| ENST00000571721.6:c.[518A>C;529C>T;533T>A;535G>C] | ENSP00000460660.2:p.[His173Pro;Arg177Cys;Leu178_Asp179delinsH... | |
| ENST00000572105.7:c.[559A>C;570C>T;574T>A;576G>C] | ENSP00000462823.1:p.[Thr187Pro;Cys190=;Trp192Ser] | |
| ENST00000573283.7:c.[518A>C;529C>T;533T>A;535G>C] MANE Select | ENSP00000458435.1:p.[His173Pro;Arg177Cys;Leu178_Asp179delinsH... | |
| ENST00000574671.6:n.[918A>C;929C>T;933T>A;935G>C] | ||
| ENST00000575659.6:c.[518A>C;529C>T;533T>A;535G>C] | ENSP00000459119.2:p.[His173Pro;Arg177Cys;Leu178Gln;Asp179His]... | |
| ENST00000575994.6:c.[518A>C;529C>T;533T>A;535G>C] | ENSP00000460464.2:p.[His173Pro;Arg177Cys;Leu178Gln;Asp179His]... | |
| ENST00000576214.3:n.[819A>C;830C>T;834T>A;836G>C] | ||
| ENST00000576544.6:c.[518A>C;529C>T;533T>A;535G>C] | ENSP00000461672.1:p.[His173Pro;Arg177Cys;Leu178Gln;Asp179His]... | |
| ENST00000615544.5:c.[518A>C;529C>T;533T>A;535G>C] | ENSP00000477968.1:p.[His173Pro;Arg177Cys;Leu178Gln;Asp179His]... | |
| ENST00000644774.2:c.[491A>C;502C>T;506T>A;508G>C] | ENSP00000493648.2:p.[His164Pro;Arg168Cys;Leu169_Asp170delinsG... | |
| ENST00000679410.1:n.[642A>C;653C>T;657T>A;659G>C] | ||
| ENST00000679480.1:c.[518A>C;529C>T;533T>A;535G>C] | ENSP00000506201.1:p.[His173Pro;Arg177Cys;Leu178Gln;Asp179His]... | |
| ENST00000679535.1:n.[819A>C;830C>T;834T>A;836G>C] | ||
| ENST00000679778.1:c.[518A>C;529C>T;533T>A;535G>C] | ENSP00000505235.1:p.[His173Pro;Arg177Cys;Leu178Gln;Asp179His]... | |
| ENST00000680227.1:c.[518A>C;529C>T;533T>A;535G>C] | ENSP00000506253.1:p.[His173Pro;Arg177Cys;Leu178_Asp179delinsH... | |
| ENST00000680727.1:c.[518A>C;529C>T;533T>A;535G>C] | ENSP00000505193.1:p.[His173Pro;Arg177Cys;Leu178_Asp179delinsH... | |
| ENST00000681052.1:c.[518A>C;529C>T;533T>A;535G>C] | ENSP00000505060.1:p.[His173Pro;Arg177Cys;Leu178Gln;Asp179His]... | |
| ENST00000681092.1:c.[*322A>C;*333C>T;*337T>A;*339G>C] | ENSP00000506720.1:n.[*322A>C;*333C>T;*337T>A;*339G>C] | |
| ENST00000681842.1:c.[518A>C;529C>T;533T>A;535G>C] | ENSP00000506126.1:p.[His173Pro;Arg177Cys;Leu178_Asp179delinsH... | |
| ENST00000331925.6:c.[518A>C;529C>T;533T>A;535G>C] | ENSP00000331514.2:p.[His173Pro;Arg177Cys;Leu178_Asp179delinsH... | |
| ENST00000571691.5:c.[491A>C;502C>T;506T>A;508G>C] | ENSP00000461407.1:p.[His164Pro;Arg168Cys;Leu169_Asp170delinsG... | |
| ENST00000572105.6:c.[559A>C;570C>T;574T>A;576G>C] | ENSP00000462823.1:p.[Thr187Pro;Cys190=;Trp192Arg;Trp192Cys] | |
| ENST00000573283.5:c.[518A>C;529C>T;533T>A;535G>C] | ENSP00000458435.1:p.[His173Pro;Arg177Cys;Leu178Gln;Asp179His]... | |
| ENST00000574671.5:n.[377A>C;388C>T;392T>A;394G>C] | ||
| ENST00000575087.5:c.[518A>C;529C>T;533T>A;535G>C] | ENSP00000459124.1:p.[His173Pro;Arg177Cys;Leu178Gln;Asp179His]... | |
| ENST00000575659.5:c.[518A>C;529C>T;533T>A;535G>C] | ENSP00000459119.1:p.[His173Pro;Arg177Cys;Leu178Gln;Asp179His]... | |
| ENST00000575842.5:c.[518A>C;529C>T;533T>A;535G>C] | ENSP00000458162.1:p.[His173Pro;Arg177Cys;Leu178Gln;Asp179His]... | |
| ENST00000575994.5:c.[518A>C;529C>T;533T>A;535G>C] | ENSP00000460464.1:p.[His173Pro;Arg177Cys;Leu178Gln;Asp179His]... | |
| ENST00000576209.5:n.[403A>C;414C>T;418T>A;420G>C] | ||
| ENST00000576214.2:n.[716A>C;727C>T;731T>A;733G>C] | ||
| ENST00000576544.5:c.[518A>C;529C>T;533T>A;535G>C] | ENSP00000461672.1:p.[His173Pro;Arg177Cys;Leu178Gln;Asp179His]... | |
| ENST00000576917.5:n.[571A>C;582C>T;586T>A;588G>C] | ||
| ENST00000615544.4:c.[518A>C;529C>T;533T>A;535G>C] | ENSP00000477968.1:p.[His173Pro;Arg177Cys;Leu178Gln;Asp179His]... | |
| NM_001199954.1:c.[518A>C;529C>T;533T>A;535G>C] | NP_001186883.1:p.[His173Pro;Arg177Cys;Leu178_Asp179delinsHisH... | |
| NM_001614.3:c.[518A>C;529C>T;533T>A;535G>C] | NP_001605.1:p.[His173Pro;Arg177Cys;Leu178Gln;Asp179His] | |
| NR_037688.1:n.[657A>C;668C>T;672T>A;674G>C] | ||
| NM_001199954.2:c.[518A>C;529C>T;533T>A;535G>C] | NP_001186883.1:p.[His173Pro;Arg177Cys;Leu178Gln;Asp179His] | |
| NM_001614.4:c.[518A>C;529C>T;533T>A;535G>C] | NP_001605.1:p.[His173Pro;Arg177Cys;Leu178_Asp179delinsHisHis]... | |
| NR_037688.2:n.[590A>C;601C>T;605T>A;607G>C] | ||
| NM_001614.5:c.[518A>C;529C>T;533T>A;535G>C] MANE Select | NP_001605.1:p.[His173Pro;Arg177Cys;Leu178_Asp179delinsHisHis]... | |
| NR_037688.3:n.[590A>C;601C>T;605T>A;607G>C] | ||
| NM_001199954.3:c.[518A>C;529C>T;533T>A;535G>C] | NP_001186883.1:p.[His173Pro;Arg177Cys;Leu178Gln;Asp179His] |