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
Gene: ACTG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.[81511587C>G;81511589A>T;81511599C>T;81511606G>T] , CM000679.2:g.[81511587C>G;81511589A>T;81511599C>T;81511606G>T] GRCh38
NC_000017.10:g.[79478613C>G;79478615A>T;79478625C>T;79478632G>T] , CM000679.1:g.[79478613C>G;79478615A>T;79478625C>T;79478632G>T] GRCh37
NC_000017.9:g.[77093208C>G;77093210A>T;77093220C>T;77093227G>T] NCBI36
NG_011433.1:g.[6196C>A;6203G>A;6213T>A;6215G>C]

Transcript Alleles

HGVS Amino-acid Change
ENST00000570382.2:c.[384C>A;391G>A;401T>A;403G>C] ENSP00000466346.2:p.[Asn128Lys;Ala131Thr;Val134_Ala135delinsA...
ENST00000571691.6:c.[340-28C>A;340-21G>A;340-11T>A;340-9G>C] ENSP00000461407.2:n.[340-28C>A;340-21G>A;340-11T>A;340-9G>C]
ENST00000571721.6:c.[384C>A;391G>A;401T>A;403G>C] ENSP00000460660.2:p.[Asn128Lys;Ala131Thr;Val134_Ala135delinsA...
ENST00000572105.7:c.[425C>A;432G>A;442T>A;444G>C] ENSP00000462823.1:p.[Thr142Lys;Arg144=;Trp148Ser]
ENST00000573283.7:c.[384C>A;391G>A;401T>A;403G>C] MANE Select ENSP00000458435.1:p.[Asn128Lys;Ala131Thr;Val134_Ala135delinsA...
ENST00000574671.6:n.[784C>A;791G>A;801T>A;803G>C]
ENST00000575659.6:c.[384C>A;391G>A;401T>A;403G>C] ENSP00000459119.2:p.[Asn128Lys;Ala131Thr;Val134Glu;Ala135Pro]...
ENST00000575994.6:c.[384C>A;391G>A;401T>A;403G>C] ENSP00000460464.2:p.[Asn128Lys;Ala131Thr;Val134Glu;Ala135Pro]...
ENST00000576214.3:n.[685C>A;692G>A;702T>A;704G>C]
ENST00000576544.6:c.[384C>A;391G>A;401T>A;403G>C] ENSP00000461672.1:p.[Asn128Lys;Ala131Thr;Val134Glu;Ala135Pro]...
ENST00000615544.5:c.[384C>A;391G>A;401T>A;403G>C] ENSP00000477968.1:p.[Asn128Lys;Ala131Thr;Val134Glu;Ala135Pro]...
ENST00000644774.2:c.[357C>A;364G>A;374T>A;376G>C] ENSP00000493648.2:p.[Asn119Lys;Ala122Thr;Val125_Ala126delinsA...
ENST00000679410.1:n.[508C>A;515G>A;525T>A;527G>C]
ENST00000679480.1:c.[384C>A;391G>A;401T>A;403G>C] ENSP00000506201.1:p.[Asn128Lys;Ala131Thr;Val134Glu;Ala135Pro]...
ENST00000679535.1:n.[685C>A;692G>A;702T>A;704G>C]
ENST00000679778.1:c.[384C>A;391G>A;401T>A;403G>C] ENSP00000505235.1:p.[Asn128Lys;Ala131Thr;Val134Glu;Ala135Pro]...
ENST00000680227.1:c.[384C>A;391G>A;401T>A;403G>C] ENSP00000506253.1:p.[Asn128Lys;Ala131Thr;Val134_Ala135delinsA...
ENST00000680727.1:c.[384C>A;391G>A;401T>A;403G>C] ENSP00000505193.1:p.[Asn128Lys;Ala131Thr;Val134_Ala135delinsA...
ENST00000681052.1:c.[384C>A;391G>A;401T>A;403G>C] ENSP00000505060.1:p.[Asn128Lys;Ala131Thr;Val134Glu;Ala135Pro]...
ENST00000681092.1:c.[*188C>A;*195G>A;*205T>A;*207G>C] ENSP00000506720.1:n.[*188C>A;*195G>A;*205T>A;*207G>C]
ENST00000681842.1:c.[384C>A;391G>A;401T>A;403G>C] ENSP00000506126.1:p.[Asn128Lys;Ala131Thr;Val134_Ala135delinsA...
ENST00000331925.6:c.[384C>A;391G>A;401T>A;403G>C] ENSP00000331514.2:p.[Asn128Lys;Ala131Thr;Val134_Ala135delinsA...
ENST00000570382.1:c.[340-28C>A;340-21G>A;340-11T>A;340-9G>C] ENSP00000466346.1:n.[340-28C>A;340-21G>A;340-11T>A;340-9G>C]
ENST00000571691.5:c.[357C>A;364G>A;374T>A;376G>C] ENSP00000461407.1:p.[Asn119Lys;Ala122Thr;Val125_Ala126delinsA...
ENST00000571721.5:c.[384C>A;391G>A;401T>A;403G>C] ENSP00000460660.1:p.[Asn128Lys;Ala131Thr;Val134_Ala135delinsA...
ENST00000572105.6:c.[425C>A;432G>A;442T>A;444G>C] ENSP00000462823.1:p.[Thr142Lys;Arg144=;Trp148Arg;Trp148Cys]
ENST00000573283.5:c.[384C>A;391G>A;401T>A;403G>C] ENSP00000458435.1:p.[Asn128Lys;Ala131Thr;Val134Glu;Ala135Pro]...
ENST00000574671.5:n.[243C>A;250G>A;260T>A;262G>C]
ENST00000575087.5:c.[384C>A;391G>A;401T>A;403G>C] ENSP00000459124.1:p.[Asn128Lys;Ala131Thr;Val134Glu;Ala135Pro]...
ENST00000575659.5:c.[384C>A;391G>A;401T>A;403G>C] ENSP00000459119.1:p.[Asn128Lys;Ala131Thr;Val134Glu;Ala135Pro]...
ENST00000575842.5:c.[384C>A;391G>A;401T>A;403G>C] ENSP00000458162.1:p.[Asn128Lys;Ala131Thr;Val134Glu;Ala135Pro]...
ENST00000575994.5:c.[384C>A;391G>A;401T>A;403G>C] ENSP00000460464.1:p.[Asn128Lys;Ala131Thr;Val134Glu;Ala135Pro]...
ENST00000576209.5:n.[269C>A;276G>A;286T>A;288G>C]
ENST00000576214.2:n.[582C>A;589G>A;599T>A;601G>C]
ENST00000576544.5:c.[384C>A;391G>A;401T>A;403G>C] ENSP00000461672.1:p.[Asn128Lys;Ala131Thr;Val134Glu;Ala135Pro]...
ENST00000576917.5:n.[437C>A;444G>A;454T>A;456G>C]
ENST00000615544.4:c.[384C>A;391G>A;401T>A;403G>C] ENSP00000477968.1:p.[Asn128Lys;Ala131Thr;Val134Glu;Ala135Pro]...
NM_001199954.1:c.[384C>A;391G>A;401T>A;403G>C] NP_001186883.1:p.[Asn128Lys;Ala131Thr;Val134_Ala135delinsAspP...
NM_001614.3:c.[384C>A;391G>A;401T>A;403G>C] NP_001605.1:p.[Asn128Lys;Ala131Thr;Val134Glu;Ala135Pro]
NR_037688.1:n.[523C>A;530G>A;540T>A;542G>C]
NM_001199954.2:c.[384C>A;391G>A;401T>A;403G>C] NP_001186883.1:p.[Asn128Lys;Ala131Thr;Val134Glu;Ala135Pro]
NM_001614.4:c.[384C>A;391G>A;401T>A;403G>C] NP_001605.1:p.[Asn128Lys;Ala131Thr;Val134_Ala135delinsAspPro]...
NR_037688.2:n.[456C>A;463G>A;473T>A;475G>C]
NM_001614.5:c.[384C>A;391G>A;401T>A;403G>C] MANE Select NP_001605.1:p.[Asn128Lys;Ala131Thr;Val134_Ala135delinsAspPro]...
NR_037688.3:n.[456C>A;463G>A;473T>A;475G>C]
NM_001199954.3:c.[384C>A;391G>A;401T>A;403G>C] NP_001186883.1:p.[Asn128Lys;Ala131Thr;Val134Glu;Ala135Pro]