Canonical Allele Identifier: CA986848886

Gene: ACTG1

Linked Data

• gnomAD v3: 17-81511308-C-CTG
• gnomAD v4: 17-81511308-C-CTG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81511308_81511309insTG , CM000679.2:g.81511308_81511309insTG	GRCh38
NC_000017.10:g.79478334_79478335insTG , CM000679.1:g.79478334_79478335insTG	GRCh37
NC_000017.9:g.77092929_77092930insTG	NCBI36
NG_011433.1:g.6493_6494insCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570382.2:c.681_682insCA	ENSP00000466346.2:p.Ala228GlnfsTer?
ENST00000571691.6:c.609_610insCA	ENSP00000461407.2:p.Ala204GlnfsTer?
ENST00000571721.6:c.681_682insCA	ENSP00000460660.2:p.Ala228GlnfsTer?
ENST00000572105.7:c.*125_*126insCA	ENSP00000462823.1:n.*125_*126insCA
ENST00000573283.7:c.681_682insCA MANE Select	ENSP00000458435.1:p.Ala228GlnfsTer?
ENST00000574671.6:n.1081_1082insCA
ENST00000575659.6:c.681_682insCA	ENSP00000459119.2:p.Ala228GlnfsTer?
ENST00000575994.6:c.681_682insCA	ENSP00000460464.2:p.Ala228GlnfsTer?
ENST00000576214.3:n.982_983insCA
ENST00000576544.6:c.681_682insCA	ENSP00000461672.1:p.Ala228GlnfsTer?
ENST00000615544.5:c.681_682insCA	ENSP00000477968.1:p.Ala228GlnfsTer?
ENST00000644774.2:c.654_655insCA	ENSP00000493648.2:p.Ala219GlnfsTer?
ENST00000679410.1:n.805_806insCA
ENST00000679480.1:c.681_682insCA	ENSP00000506201.1:p.Ala228GlnfsTer?
ENST00000679535.1:n.982_983insCA
ENST00000679778.1:c.681_682insCA	ENSP00000505235.1:p.Ala228GlnfsTer?
ENST00000680227.1:c.681_682insCA	ENSP00000506253.1:p.Ala228GlnfsTer?
ENST00000680727.1:c.681_682insCA	ENSP00000505193.1:p.Ala228GlnfsTer?
ENST00000681052.1:c.681_682insCA	ENSP00000505060.1:p.Ala228GlnfsTer?
ENST00000681092.1:c.*485_*486insCA	ENSP00000506720.1:n.*485_*486insCA
ENST00000681842.1:c.681_682insCA	ENSP00000506126.1:p.Ala228GlnfsTer?
ENST00000331925.6:c.681_682insCA	ENSP00000331514.2:p.Ala228GlnfsTer?
ENST00000571691.5:c.654_655insCA	ENSP00000461407.1:p.Ala219GlnfsTer?
ENST00000572105.6:c.*125_*126insCA	ENSP00000462823.1:n.*125_*126insCA
ENST00000573283.5:c.681_682insCA	ENSP00000458435.1:p.Ala228GlnfsTer?
ENST00000574671.5:n.540_541insCA
ENST00000575087.5:c.681_682insCA	ENSP00000459124.1:p.Ala228GlnfsTer?
ENST00000575842.5:c.681_682insCA	ENSP00000458162.1:p.Ala228GlnfsTer?
ENST00000576209.5:n.566_567insCA
ENST00000576214.2:n.879_880insCA
ENST00000576544.5:c.681_682insCA	ENSP00000461672.1:p.Ala228GlnfsTer?
ENST00000576917.5:n.734_735insCA
ENST00000615544.4:c.681_682insCA	ENSP00000477968.1:p.Ala228GlnfsTer?
NM_001199954.1:c.681_682insCA	NP_001186883.1:p.Ala228GlnfsTer?
NM_001614.3:c.681_682insCA	NP_001605.1:p.Ala228GlnfsTer?
NR_037688.1:n.820_821insCA
NM_001199954.2:c.681_682insCA	NP_001186883.1:p.Ala228GlnfsTer?
NM_001614.4:c.681_682insCA	NP_001605.1:p.Ala228GlnfsTer?
NR_037688.2:n.753_754insCA
NM_001614.5:c.681_682insCA MANE Select	NP_001605.1:p.Ala228GlnfsTer?
NR_037688.3:n.753_754insCA
NM_001199954.3:c.681_682insCA	NP_001186883.1:p.Ala228GlnfsTer?