Canonical Allele Identifier: CA2640437695

Gene: ACTG1

Linked Data

• gnomAD v4: 17-81512605-C-CCCGG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81512608_81512611dup , CM000679.2:g.81512608_81512611dup	GRCh38
NC_000017.10:g.79479634_79479637dup , CM000679.1:g.79479634_79479637dup	GRCh37
NC_000017.9:g.77094229_77094232dup	NCBI36
NG_011433.1:g.5193_5196dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570382.2:c.-7+6_-7+9dup	ENSP00000466346.2:n.-7+6_-7+9dup
ENST00000571691.6:c.-7+125_-7+128dup	ENSP00000461407.2:n.-7+125_-7+128dup
ENST00000571721.6:c.-152_-149dup	ENSP00000460660.2:n.-152_-149dup
ENST00000572105.7:c.-7+125_-7+128dup	ENSP00000462823.1:n.-7+125_-7+128dup
ENST00000573283.7:c.-7+125_-7+128dup MANE Select	ENSP00000458435.1:n.-7+125_-7+128dup
ENST00000574671.6:n.118+125_118+128dup
ENST00000575659.6:c.-6-249_-6-246dup	ENSP00000459119.2:n.-6-249_-6-246dup
ENST00000575994.6:c.-6-249_-6-246dup	ENSP00000460464.2:n.-6-249_-6-246dup
ENST00000576214.3:n.118+125_118+128dup
ENST00000576544.6:c.-7+125_-7+128dup	ENSP00000461672.1:n.-7+125_-7+128dup
ENST00000615544.5:c.-6-249_-6-246dup	ENSP00000477968.1:n.-6-249_-6-246dup
ENST00000644774.2:c.-7+125_-7+128dup	ENSP00000493648.2:n.-7+125_-7+128dup
ENST00000679410.1:n.118+125_118+128dup
ENST00000679480.1:c.-15_-12dup	ENSP00000506201.1:n.-15_-12dup
ENST00000679535.1:n.118+125_118+128dup
ENST00000679778.1:c.-6-249_-6-246dup	ENSP00000505235.1:n.-6-249_-6-246dup
ENST00000680227.1:c.-7+6_-7+9dup	ENSP00000506253.1:n.-7+6_-7+9dup
ENST00000681052.1:c.-7+125_-7+128dup	ENSP00000505060.1:n.-7+125_-7+128dup
ENST00000681092.1:c.-7+125_-7+128dup	ENSP00000506720.1:n.-7+125_-7+128dup
ENST00000681842.1:c.-7+125_-7+128dup	ENSP00000506126.1:n.-7+125_-7+128dup
ENST00000331925.6:c.-7+125_-7+128dup	ENSP00000331514.2:n.-7+125_-7+128dup
ENST00000570382.1:c.-7+125_-7+128dup	ENSP00000466346.1:n.-7+125_-7+128dup
ENST00000571691.5:c.-7+125_-7+128dup	ENSP00000461407.1:n.-7+125_-7+128dup
ENST00000571721.5:c.-152_-149dup	ENSP00000460660.1:n.-152_-149dup
ENST00000572105.6:c.-7+125_-7+128dup	ENSP00000462823.1:n.-7+125_-7+128dup
ENST00000573283.5:c.-7+6_-7+9dup	ENSP00000458435.1:n.-7+6_-7+9dup
ENST00000575087.5:c.-10_-7dup	ENSP00000459124.1:n.-10_-7dup
ENST00000575659.5:c.-6-249_-6-246dup	ENSP00000459119.1:n.-6-249_-6-246dup
ENST00000575842.5:c.-255_-252dup	ENSP00000458162.1:n.-255_-252dup
ENST00000575994.5:c.-6-249_-6-246dup	ENSP00000460464.1:n.-6-249_-6-246dup
ENST00000576214.2:n.15+125_15+128dup
ENST00000576544.5:c.-7+125_-7+128dup	ENSP00000461672.1:n.-7+125_-7+128dup
ENST00000576917.5:n.47+125_47+128dup
ENST00000615544.4:c.-7+125_-7+128dup	ENSP00000477968.1:n.-7+125_-7+128dup
NM_001199954.1:c.-7+6_-7+9dup	NP_001186883.1:n.-7+6_-7+9dup
NM_001614.3:c.-7+125_-7+128dup	NP_001605.1:n.-7+125_-7+128dup
NR_037688.1:n.133+125_133+128dup
NM_001199954.2:c.-7+6_-7+9dup	NP_001186883.1:n.-7+6_-7+9dup
NM_001614.4:c.-7+125_-7+128dup	NP_001605.1:n.-7+125_-7+128dup
NR_037688.2:n.66+125_66+128dup
NM_001614.5:c.-7+125_-7+128dup MANE Select	NP_001605.1:n.-7+125_-7+128dup
NR_037688.3:n.66+125_66+128dup
NM_001199954.3:c.-7+6_-7+9dup	NP_001186883.1:n.-7+6_-7+9dup