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Canonical Allele Identifier:
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Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.[81511436A>T;81511463A>T;81511486G>T;81511491C>T;81511505G>C] , CM000679.2:g.[81511436A>T;81511463A>T;81511486G>T;81511491C>T;81511505G>C] | GRCh38 |
| NC_000017.10:g.[79478462A>T;79478489A>T;79478512G>T;79478517C>T;79478531G>C] , CM000679.1:g.[79478462A>T;79478489A>T;79478512G>T;79478517C>T;79478531G>C] | GRCh37 |
| NC_000017.9:g.[77093057A>T;77093084A>T;77093107G>T;77093112C>T;77093126G>C] | NCBI36 |
| NG_011433.1:g.[6297C>G;6311G>A;6316C>A;6339T>A;6366T>A] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570382.2:c.[485C>G;499G>A;504C>A;527T>A;554T>A] | ENSP00000466346.2:p.[Thr162Arg;Glu167Lys;Gly168=;Leu176Gln;Le... | |
| ENST00000571691.6:c.[413C>G;427G>A;432C>A;455T>A;482T>A] | ENSP00000461407.2:p.[Thr138Arg;Glu143Lys;Gly144=;Leu152Gln;Le... | |
| ENST00000571721.6:c.[485C>G;499G>A;504C>A;527T>A;554T>A] | ENSP00000460660.2:p.[Thr162Arg;Glu167Lys;Gly168=;Leu176Gln;Le... | |
| ENST00000572105.7:c.[526C>G;540G>A;545C>A;568T>A;595T>A] | ENSP00000462823.1:p.[Arg176Gly;Thr180=;Ala182Asp;Cys190Ser;Te... | |
| ENST00000573283.7:c.[485C>G;499G>A;504C>A;527T>A;554T>A] MANE Select | ENSP00000458435.1:p.[Thr162Arg;Glu167Lys;Gly168=;Leu176Gln;Le... | |
| ENST00000574671.6:n.[885C>G;899G>A;904C>A;927T>A;954T>A] | ||
| ENST00000575659.6:c.[485C>G;499G>A;504C>A;527T>A;554T>A] | ENSP00000459119.2:p.[Thr162Arg;Glu167Lys;Gly168=;Leu176Gln;Le... | |
| ENST00000575994.6:c.[485C>G;499G>A;504C>A;527T>A;554T>A] | ENSP00000460464.2:p.[Thr162Arg;Glu167Lys;Gly168=;Leu176Gln;Le... | |
| ENST00000576214.3:n.[786C>G;800G>A;805C>A;828T>A;855T>A] | ||
| ENST00000576544.6:c.[485C>G;499G>A;504C>A;527T>A;554T>A] | ENSP00000461672.1:p.[Thr162Arg;Glu167Lys;Gly168=;Leu176Gln;Le... | |
| ENST00000615544.5:c.[485C>G;499G>A;504C>A;527T>A;554T>A] | ENSP00000477968.1:p.[Thr162Arg;Glu167Lys;Gly168=;Leu176Gln;Le... | |
| ENST00000644774.2:c.[458C>G;472G>A;477C>A;500T>A;527T>A] | ENSP00000493648.2:p.[Thr153Arg;Glu158Lys;Gly159=;Leu167Gln;Le... | |
| ENST00000679410.1:n.[609C>G;623G>A;628C>A;651T>A;678T>A] | ||
| ENST00000679480.1:c.[485C>G;499G>A;504C>A;527T>A;554T>A] | ENSP00000506201.1:p.[Thr162Arg;Glu167Lys;Gly168=;Leu176Gln;Le... | |
| ENST00000679535.1:n.[786C>G;800G>A;805C>A;828T>A;855T>A] | ||
| ENST00000679778.1:c.[485C>G;499G>A;504C>A;527T>A;554T>A] | ENSP00000505235.1:p.[Thr162Arg;Glu167Lys;Gly168=;Leu176Gln;Le... | |
| ENST00000680227.1:c.[485C>G;499G>A;504C>A;527T>A;554T>A] | ENSP00000506253.1:p.[Thr162Arg;Glu167Lys;Gly168=;Leu176Gln;Le... | |
| ENST00000680727.1:c.[485C>G;499G>A;504C>A;527T>A;554T>A] | ENSP00000505193.1:p.[Thr162Arg;Glu167Lys;Gly168=;Leu176Gln;Le... | |
| ENST00000681052.1:c.[485C>G;499G>A;504C>A;527T>A;554T>A] | ENSP00000505060.1:p.[Thr162Arg;Glu167Lys;Gly168=;Leu176Gln;Le... | |
| ENST00000681092.1:c.[*289C>G;*303G>A;*308C>A;*331T>A;*358T>A] | ENSP00000506720.1:n.[*289C>G;*303G>A;*308C>A;*331T>A;*358T>A]... | |
| ENST00000681842.1:c.[485C>G;499G>A;504C>A;527T>A;554T>A] | ENSP00000506126.1:p.[Thr162Arg;Glu167Lys;Gly168=;Leu176Gln;Le... | |
| ENST00000331925.6:c.[485C>G;499G>A;504C>A;527T>A;554T>A] | ENSP00000331514.2:p.[Thr162Arg;Glu167Lys;Gly168=;Leu176Gln;Le... | |
| ENST00000571691.5:c.[458C>G;472G>A;477C>A;500T>A;527T>A] | ENSP00000461407.1:p.[Thr153Arg;Glu158Lys;Gly159=;Leu167Gln;Le... | |
| ENST00000572105.6:c.[526C>G;540G>A;545C>A;568T>A;595T>A] | ENSP00000462823.1:p.[Arg176Gly;Thr180=;Ala182Asp;Cys190Ser;Te... | |
| ENST00000573283.5:c.[485C>G;499G>A;504C>A;527T>A;554T>A] | ENSP00000458435.1:p.[Thr162Arg;Glu167Lys;Gly168=;Leu176Gln;Le... | |
| ENST00000574671.5:n.[344C>G;358G>A;363C>A;386T>A;413T>A] | ||
| ENST00000575087.5:c.[485C>G;499G>A;504C>A;527T>A;554T>A] | ENSP00000459124.1:p.[Thr162Arg;Glu167Lys;Gly168=;Leu176Gln;Le... | |
| ENST00000575659.5:c.[485C>G;499G>A;504C>A;527T>A;554T>A] | ENSP00000459119.1:p.[Thr162Arg;Glu167Lys;Gly168=;Leu176Gln;Le... | |
| ENST00000575842.5:c.[485C>G;499G>A;504C>A;527T>A;554T>A] | ENSP00000458162.1:p.[Thr162Arg;Glu167Lys;Gly168=;Leu176Gln;Le... | |
| ENST00000575994.5:c.[485C>G;499G>A;504C>A;527T>A;554T>A] | ENSP00000460464.1:p.[Thr162Arg;Glu167Lys;Gly168=;Leu176Gln;Le... | |
| ENST00000576209.5:n.[370C>G;384G>A;389C>A;412T>A;439T>A] | ||
| ENST00000576214.2:n.[683C>G;697G>A;702C>A;725T>A;752T>A] | ||
| ENST00000576544.5:c.[485C>G;499G>A;504C>A;527T>A;554T>A] | ENSP00000461672.1:p.[Thr162Arg;Glu167Lys;Gly168=;Leu176Gln;Le... | |
| ENST00000576917.5:n.[538C>G;552G>A;557C>A;580T>A;607T>A] | ||
| ENST00000615544.4:c.[485C>G;499G>A;504C>A;527T>A;554T>A] | ENSP00000477968.1:p.[Thr162Arg;Glu167Lys;Gly168=;Leu176Gln;Le... | |
| NM_001199954.1:c.[485C>G;499G>A;504C>A;527T>A;554T>A] | NP_001186883.1:p.[Thr162Arg;Glu167Lys;Gly168=;Leu176Gln;Leu18... | |
| NM_001614.3:c.[485C>G;499G>A;504C>A;527T>A;554T>A] | NP_001605.1:p.[Thr162Arg;Glu167Lys;Gly168=;Leu176Gln;Leu185Gl... | |
| NR_037688.1:n.[624C>G;638G>A;643C>A;666T>A;693T>A] | ||
| NM_001199954.2:c.[485C>G;499G>A;504C>A;527T>A;554T>A] | NP_001186883.1:p.[Thr162Arg;Glu167Lys;Gly168=;Leu176Gln;Leu18... | |
| NM_001614.4:c.[485C>G;499G>A;504C>A;527T>A;554T>A] | NP_001605.1:p.[Thr162Arg;Glu167Lys;Gly168=;Leu176Gln;Leu185Gl... | |
| NR_037688.2:n.[557C>G;571G>A;576C>A;599T>A;626T>A] | ||
| NM_001614.5:c.[485C>G;499G>A;504C>A;527T>A;554T>A] MANE Select | NP_001605.1:p.[Thr162Arg;Glu167Lys;Gly168=;Leu176Gln;Leu185Gl... | |
| NR_037688.3:n.[557C>G;571G>A;576C>A;599T>A;626T>A] | ||
| NM_001199954.3:c.[485C>G;499G>A;504C>A;527T>A;554T>A] | NP_001186883.1:p.[Thr162Arg;Glu167Lys;Gly168=;Leu176Gln;Leu18... |