Canonical Allele Identifier: CA986848880

Gene: ACTG1

Linked Data

• gnomAD v3: 17-81511305-TGG-T
• gnomAD v4: 17-81511305-TGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81511306_81511307del , CM000679.2:g.81511306_81511307del	GRCh38
NC_000017.10:g.79478332_79478333del , CM000679.1:g.79478332_79478333del	GRCh37
NC_000017.9:g.77092927_77092928del	NCBI36
NG_011433.1:g.6495_6496del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570382.2:c.683_684del	ENSP00000466346.2:p.Ala228AspfsTer25
ENST00000571691.6:c.611_612del	ENSP00000461407.2:p.Ala204AspfsTer25
ENST00000571721.6:c.683_684del	ENSP00000460660.2:p.Ala228AspfsTer25
ENST00000572105.7:c.*127_*128del	ENSP00000462823.1:n.*127_*128del
ENST00000573283.7:c.683_684del MANE Select	ENSP00000458435.1:p.Ala228AspfsTer25
ENST00000574671.6:n.1083_1084del
ENST00000575659.6:c.683_684del	ENSP00000459119.2:p.Ala228AspfsTer25
ENST00000575994.6:c.683_684del	ENSP00000460464.2:p.Ala228AspfsTer25
ENST00000576214.3:n.984_985del
ENST00000576544.6:c.683_684del	ENSP00000461672.1:p.Ala228AspfsTer25
ENST00000615544.5:c.683_684del	ENSP00000477968.1:p.Ala228AspfsTer25
ENST00000644774.2:c.656_657del	ENSP00000493648.2:p.Ala219AspfsTer25
ENST00000679410.1:n.807_808del
ENST00000679480.1:c.683_684del	ENSP00000506201.1:p.Ala228AspfsTer25
ENST00000679535.1:n.984_985del
ENST00000679778.1:c.683_684del	ENSP00000505235.1:p.Ala228AspfsTer25
ENST00000680227.1:c.683_684del	ENSP00000506253.1:p.Ala228AspfsTer25
ENST00000680727.1:c.683_684del	ENSP00000505193.1:p.Ala228AspfsTer25
ENST00000681052.1:c.683_684del	ENSP00000505060.1:p.Ala228AspfsTer25
ENST00000681092.1:c.*487_*488del	ENSP00000506720.1:n.*487_*488del
ENST00000681842.1:c.683_684del	ENSP00000506126.1:p.Ala228AspfsTer25
ENST00000331925.6:c.683_684del	ENSP00000331514.2:p.Ala228AspfsTer25
ENST00000571691.5:c.656_657del	ENSP00000461407.1:p.Ala219AspfsTer?
ENST00000572105.6:c.*127_*128del	ENSP00000462823.1:n.*127_*128del
ENST00000573283.5:c.683_684del	ENSP00000458435.1:p.Ala228AspfsTer25
ENST00000574671.5:n.542_543del
ENST00000575087.5:c.683_684del	ENSP00000459124.1:p.Ala228AspfsTer25
ENST00000575842.5:c.683_684del	ENSP00000458162.1:p.Ala228AspfsTer25
ENST00000576209.5:n.568_569del
ENST00000576214.2:n.881_882del
ENST00000576544.5:c.683_684del	ENSP00000461672.1:p.Ala228AspfsTer25
ENST00000576917.5:n.736_737del
ENST00000615544.4:c.683_684del	ENSP00000477968.1:p.Ala228AspfsTer25
NM_001199954.1:c.683_684del	NP_001186883.1:p.Ala228AspfsTer25
NM_001614.3:c.683_684del	NP_001605.1:p.Ala228AspfsTer25
NR_037688.1:n.822_823del
NM_001199954.2:c.683_684del	NP_001186883.1:p.Ala228AspfsTer25
NM_001614.4:c.683_684del	NP_001605.1:p.Ala228AspfsTer25
NR_037688.2:n.755_756del
NM_001614.5:c.683_684del MANE Select	NP_001605.1:p.Ala228AspfsTer25
NR_037688.3:n.755_756del
NM_001199954.3:c.683_684del	NP_001186883.1:p.Ala228AspfsTer25