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Canonical Allele Identifier:
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Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.[81511571A>T;81511587C>G;81511589A>T;81511608T>C;81511622A>T] , CM000679.2:g.[81511571A>T;81511587C>G;81511589A>T;81511608T>C;81511622A>T] | GRCh38 |
| NC_000017.10:g.[79478597A>T;79478613C>G;79478615A>T;79478634T>C;79478648A>T] , CM000679.1:g.[79478597A>T;79478613C>G;79478615A>T;79478634T>C;79478648A>T] | GRCh37 |
| NC_000017.9:g.[77093192A>T;77093208C>G;77093210A>T;77093229T>C;77093243A>T] | NCBI36 |
| NG_011433.1:g.[6180T>A;6194A>G;6213T>A;6215G>C;6231T>A] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570382.2:c.[368T>A;382A>G;401T>A;403G>C;419T>A] | ENSP00000466346.2:p.[Met123Lys;Asn128Asp;Val134_Ala135delinsA... | |
| ENST00000571691.6:c.[340-44T>A;340-30A>G;340-11T>A;340-9G>C;347T>A] | ENSP00000461407.2:p.Leu116Gln | |
| ENST00000571721.6:c.[368T>A;382A>G;401T>A;403G>C;419T>A] | ENSP00000460660.2:p.[Met123Lys;Asn128Asp;Val134_Ala135delinsA... | |
| ENST00000572105.7:c.[409T>A;423A>G;442T>A;444G>C;460T>A] | ENSP00000462823.1:p.[Cys137Ser;Ser141=;Trp148Ser;Cys154Ser] | |
| ENST00000573283.7:c.[368T>A;382A>G;401T>A;403G>C;419T>A] MANE Select | ENSP00000458435.1:p.[Met123Lys;Asn128Asp;Val134_Ala135delinsA... | |
| ENST00000574671.6:n.[768T>A;782A>G;801T>A;803G>C;819T>A] | ||
| ENST00000575659.6:c.[368T>A;382A>G;401T>A;403G>C;419T>A] | ENSP00000459119.2:p.[Met123Lys;Asn128Asp;Val134Glu;Ala135Pro;... | |
| ENST00000575994.6:c.[368T>A;382A>G;401T>A;403G>C;419T>A] | ENSP00000460464.2:p.[Met123Lys;Asn128Asp;Val134Glu;Ala135Pro;... | |
| ENST00000576214.3:n.[669T>A;683A>G;702T>A;704G>C;720T>A] | ||
| ENST00000576544.6:c.[368T>A;382A>G;401T>A;403G>C;419T>A] | ENSP00000461672.1:p.[Met123Lys;Asn128Asp;Val134Glu;Ala135Pro;... | |
| ENST00000615544.5:c.[368T>A;382A>G;401T>A;403G>C;419T>A] | ENSP00000477968.1:p.[Met123Lys;Asn128Asp;Val134Glu;Ala135Pro;... | |
| ENST00000644774.2:c.[341T>A;355A>G;374T>A;376G>C;392T>A] | ENSP00000493648.2:p.[Met114Lys;Asn119Asp;Val125_Ala126delinsA... | |
| ENST00000679410.1:n.[492T>A;506A>G;525T>A;527G>C;543T>A] | ||
| ENST00000679480.1:c.[368T>A;382A>G;401T>A;403G>C;419T>A] | ENSP00000506201.1:p.[Met123Lys;Asn128Asp;Val134Glu;Ala135Pro;... | |
| ENST00000679535.1:n.[669T>A;683A>G;702T>A;704G>C;720T>A] | ||
| ENST00000679778.1:c.[368T>A;382A>G;401T>A;403G>C;419T>A] | ENSP00000505235.1:p.[Met123Lys;Asn128Asp;Val134Glu;Ala135Pro;... | |
| ENST00000680227.1:c.[368T>A;382A>G;401T>A;403G>C;419T>A] | ENSP00000506253.1:p.[Met123Lys;Asn128Asp;Val134_Ala135delinsA... | |
| ENST00000680727.1:c.[368T>A;382A>G;401T>A;403G>C;419T>A] | ENSP00000505193.1:p.[Met123Lys;Asn128Asp;Val134_Ala135delinsA... | |
| ENST00000681052.1:c.[368T>A;382A>G;401T>A;403G>C;419T>A] | ENSP00000505060.1:p.[Met123Lys;Asn128Asp;Val134Glu;Ala135Pro;... | |
| ENST00000681092.1:c.[*172T>A;*186A>G;*205T>A;*207G>C;*223T>A] | ENSP00000506720.1:n.[*172T>A;*186A>G;*205T>A;*207G>C;*223T>A]... | |
| ENST00000681842.1:c.[368T>A;382A>G;401T>A;403G>C;419T>A] | ENSP00000506126.1:p.[Met123Lys;Asn128Asp;Val134_Ala135delinsA... | |
| ENST00000331925.6:c.[368T>A;382A>G;401T>A;403G>C;419T>A] | ENSP00000331514.2:p.[Met123Lys;Asn128Asp;Val134_Ala135delinsA... | |
| ENST00000570382.1:c.[340-44T>A;340-30A>G;340-11T>A;340-9G>C;347T>A] | ENSP00000466346.1:p.Leu116Gln | |
| ENST00000571691.5:c.[341T>A;355A>G;374T>A;376G>C;392T>A] | ENSP00000461407.1:p.[Met114Lys;Asn119Asp;Val125_Ala126delinsA... | |
| ENST00000571721.5:c.[368T>A;382A>G;401T>A;403G>C;419T>A] | ENSP00000460660.1:p.[Met123Lys;Asn128Asp;Val134_Ala135delinsA... | |
| ENST00000572105.6:c.[409T>A;423A>G;442T>A;444G>C;460T>A] | ENSP00000462823.1:p.[Cys137Ser;Ser141=;Trp148Arg;Trp148Cys;Cy... | |
| ENST00000573283.5:c.[368T>A;382A>G;401T>A;403G>C;419T>A] | ENSP00000458435.1:p.[Met123Lys;Asn128Asp;Val134Glu;Ala135Pro;... | |
| ENST00000574671.5:n.[227T>A;241A>G;260T>A;262G>C;278T>A] | ||
| ENST00000575087.5:c.[368T>A;382A>G;401T>A;403G>C;419T>A] | ENSP00000459124.1:p.[Met123Lys;Asn128Asp;Val134Glu;Ala135Pro;... | |
| ENST00000575659.5:c.[368T>A;382A>G;401T>A;403G>C;419T>A] | ENSP00000459119.1:p.[Met123Lys;Asn128Asp;Val134Glu;Ala135Pro;... | |
| ENST00000575842.5:c.[368T>A;382A>G;401T>A;403G>C;419T>A] | ENSP00000458162.1:p.[Met123Lys;Asn128Asp;Val134Glu;Ala135Pro;... | |
| ENST00000575994.5:c.[368T>A;382A>G;401T>A;403G>C;419T>A] | ENSP00000460464.1:p.[Met123Lys;Asn128Asp;Val134Glu;Ala135Pro;... | |
| ENST00000576209.5:n.[253T>A;267A>G;286T>A;288G>C;304T>A] | ||
| ENST00000576214.2:n.[566T>A;580A>G;599T>A;601G>C;617T>A] | ||
| ENST00000576544.5:c.[368T>A;382A>G;401T>A;403G>C;419T>A] | ENSP00000461672.1:p.[Met123Lys;Asn128Asp;Val134Glu;Ala135Pro;... | |
| ENST00000576917.5:n.[421T>A;435A>G;454T>A;456G>C;472T>A] | ||
| ENST00000615544.4:c.[368T>A;382A>G;401T>A;403G>C;419T>A] | ENSP00000477968.1:p.[Met123Lys;Asn128Asp;Val134Glu;Ala135Pro;... | |
| NM_001199954.1:c.[368T>A;382A>G;401T>A;403G>C;419T>A] | NP_001186883.1:p.[Met123Lys;Asn128Asp;Val134_Ala135delinsAspP... | |
| NM_001614.3:c.[368T>A;382A>G;401T>A;403G>C;419T>A] | NP_001605.1:p.[Met123Lys;Asn128Asp;Val134Glu;Ala135Pro;Leu140... | |
| NR_037688.1:n.[507T>A;521A>G;540T>A;542G>C;558T>A] | ||
| NM_001199954.2:c.[368T>A;382A>G;401T>A;403G>C;419T>A] | NP_001186883.1:p.[Met123Lys;Asn128Asp;Val134Glu;Ala135Pro;Leu... | |
| NM_001614.4:c.[368T>A;382A>G;401T>A;403G>C;419T>A] | NP_001605.1:p.[Met123Lys;Asn128Asp;Val134_Ala135delinsAspPro;... | |
| NR_037688.2:n.[440T>A;454A>G;473T>A;475G>C;491T>A] | ||
| NM_001614.5:c.[368T>A;382A>G;401T>A;403G>C;419T>A] MANE Select | NP_001605.1:p.[Met123Lys;Asn128Asp;Val134_Ala135delinsAspPro;... | |
| NR_037688.3:n.[440T>A;454A>G;473T>A;475G>C;491T>A] | ||
| NM_001199954.3:c.[368T>A;382A>G;401T>A;403G>C;419T>A] | NP_001186883.1:p.[Met123Lys;Asn128Asp;Val134Glu;Ala135Pro;Leu... |