Canonical Allele Identifier: CA2599063457

Gene: ACTG1

Linked Data

• gnomAD v3: 17-81512359-ACCTGCCCGG-A
• gnomAD v4: 17-81512359-ACCTGCCCGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81512360_81512368del , CM000679.2:g.81512360_81512368del	GRCh38
NC_000017.10:g.79479386_79479394del , CM000679.1:g.79479386_79479394del	GRCh37
NC_000017.9:g.77093981_77093989del	NCBI36
NG_011433.1:g.5434_5442del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570382.2:c.-6-8_-6del
ENST00000571691.6:c.-6-8_-6del
ENST00000571721.6:c.-6-8_-6del
ENST00000572105.7:c.-6-8_-6del
ENST00000573283.7:c.-6-8_-6del
ENST00000574671.6:n.119-8_119del
ENST00000575659.6:c.-6-8_-6del
ENST00000575994.6:c.-6-8_-6del
ENST00000576214.3:n.119-8_119del
ENST00000576544.6:c.-6-8_-6del
ENST00000615544.5:c.-6-8_-6del
ENST00000644774.2:c.-6-8_-6del
ENST00000679410.1:n.119-8_119del
ENST00000679480.1:c.-6-8_-6del
ENST00000679535.1:n.119-8_119del
ENST00000679778.1:c.-6-8_-6del
ENST00000680227.1:c.-6-8_-6del
ENST00000680727.1:c.-14_-6del	ENSP00000505193.1:n.-14_-6del
ENST00000681052.1:c.-6-8_-6del
ENST00000681092.1:c.-6-8_-6del
ENST00000681842.1:c.-6-8_-6del
ENST00000331925.6:c.-6-8_-6del
ENST00000570382.1:c.-6-8_-6del
ENST00000571691.5:c.-6-8_-6del
ENST00000571721.5:c.-6-8_-6del
ENST00000572105.6:c.-6-8_-6del
ENST00000573283.5:c.-6-8_-6del
ENST00000575087.5:c.-6-8_-6del
ENST00000575659.5:c.-6-8_-6del
ENST00000575842.5:c.-14_-6del	ENSP00000458162.1:n.-14_-6del
ENST00000575994.5:c.-6-8_-6del
ENST00000576214.2:n.16-8_16del
ENST00000576544.5:c.-6-8_-6del
ENST00000576917.5:n.48-8_48del
ENST00000615544.4:c.-6-8_-6del
NM_001199954.1:c.-6-8_-6del
NM_001614.3:c.-6-8_-6del
NR_037688.1:n.134-8_134del
NM_001199954.2:c.-6-8_-6del
NM_001614.4:c.-6-8_-6del
NR_037688.2:n.67-8_67del
NM_001614.5:c.-6-8_-6del
NR_037688.3:n.67-8_67del
NM_001199954.3:c.-6-8_-6del