Canonical Allele Identifier: CA775642341

Gene: ACTG1

Linked Data

• dbSNP Id: rs1468132066
• gnomAD v3: 17-81510962-TCTC-T
• gnomAD v4: 17-81510962-TCTC-T
• MyVariant Identifiers: chr17:g.81510963_81510965del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81510965_81510967del , CM000679.2:g.81510965_81510967del	GRCh38
NC_000017.10:g.79477991_79477993del , CM000679.1:g.79477991_79477993del	GRCh37
NC_000017.9:g.77092586_77092588del	NCBI36
NG_011433.1:g.6837_6839del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570382.2:c.946_948del	ENSP00000466346.2:p.Glu316del
ENST00000571691.6:c.874_876del	ENSP00000461407.2:p.Glu292del
ENST00000571721.6:c.946_948del	ENSP00000460660.2:p.Glu316del
ENST00000572105.7:c.*390_*392del	ENSP00000462823.1:n.*390_*392del
ENST00000573283.7:c.946_948del MANE Select	ENSP00000458435.1:p.Glu316del
ENST00000574671.6:n.1346_1348del
ENST00000575659.6:c.946_948del	ENSP00000459119.2:p.Glu316del
ENST00000575994.6:c.946_948del	ENSP00000460464.2:p.Glu316del
ENST00000576214.3:n.1247_1249del
ENST00000576544.6:c.946_948del	ENSP00000461672.1:p.Glu316del
ENST00000615544.5:c.946_948del	ENSP00000477968.1:p.Glu316del
ENST00000644774.2:c.919_921del	ENSP00000493648.2:p.Glu307del
ENST00000679410.1:n.1149_1151del
ENST00000679480.1:c.946_948del	ENSP00000506201.1:p.Glu316del
ENST00000679535.1:n.1247_1249del
ENST00000679778.1:c.946_948del	ENSP00000505235.1:p.Glu316del
ENST00000680227.1:c.946_948del	ENSP00000506253.1:p.Glu316del
ENST00000680727.1:c.946_948del	ENSP00000505193.1:p.Glu316del
ENST00000681052.1:c.946_948del	ENSP00000505060.1:p.Glu316del
ENST00000681092.1:c.*750_*752del	ENSP00000506720.1:n.*750_*752del
ENST00000681842.1:c.946_948del	ENSP00000506126.1:p.Glu316del
ENST00000331925.6:c.946_948del	ENSP00000331514.2:p.Glu316del
ENST00000572105.6:c.*390_*392del	ENSP00000462823.1:n.*390_*392del
ENST00000573283.5:c.946_948del	ENSP00000458435.1:p.Glu316del
ENST00000574671.5:n.805_807del
ENST00000575087.5:c.946_948del	ENSP00000459124.1:p.Glu316del
ENST00000575842.5:c.946_948del	ENSP00000458162.1:p.Glu316del
ENST00000576209.5:n.831_833del
ENST00000576544.5:c.946_948del	ENSP00000461672.1:p.Glu316del
ENST00000576917.5:n.1078_1080del
ENST00000615544.4:c.946_948del	ENSP00000477968.1:p.Glu316del
NM_001199954.1:c.946_948del	NP_001186883.1:p.Glu316del
NM_001614.3:c.946_948del	NP_001605.1:p.Glu316del
NR_037688.1:n.1085_1087del
NM_001199954.2:c.946_948del	NP_001186883.1:p.Glu316del
NM_001614.4:c.946_948del	NP_001605.1:p.Glu316del
NR_037688.2:n.1018_1020del
NM_001614.5:c.946_948del MANE Select	NP_001605.1:p.Glu316del
NR_037688.3:n.1018_1020del
NM_001199954.3:c.946_948del	NP_001186883.1:p.Glu316del