Canonical Allele Identifier: CA502420008

Gene: ACTG1

Linked Data

• gnomAD v2: 17-79479167-CCCTGCAGGGGACGACCCGTCAGCCTCGCCGGCGACACCGAACCCACCCCGCAACGCAGAACCCAGGAGCCCCGCGGCGCCATCCACTCA-C
• gnomAD v3: 17-81512141-CCCTGCAGGGGACGACCCGTCAGCCTCGCCGGCGACACCGAACCCACCCCGCAACGCAGAACCCAGGAGCCCCGCGGCGCCATCCACTCA-C
• gnomAD v4: 17-81512141-CCCTGCAGGGGACGACCCGTCAGCCTCGCCGGCGACACCGAACCCACCCCGCAACGCAGAACCCAGGAGCCCCGCGGCGCCATCCACTCA-C
• MyVariant Identifiers: chr17:g.79479168_79479256del (hg19) ; chr17:g.81512142_81512230del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81512146_81512234del , CM000679.2:g.81512146_81512234del	GRCh38
NC_000017.10:g.79479172_79479260del , CM000679.1:g.79479172_79479260del	GRCh37
NC_000017.9:g.77093767_77093855del	NCBI36
NG_011433.1:g.5572_5660del

Transcript Alleles

HGVS	Amino-acid change
ENST00000570382.2:c.123+2_124del
ENST00000571691.6:c.123+2_124del
ENST00000571721.6:c.123+2_124del
ENST00000572105.7:c.123+2_124del
ENST00000573283.7:c.123+2_124del
ENST00000574671.6:n.247+2_248del
ENST00000575659.6:c.123+2_124del
ENST00000575994.6:c.123+2_124del
ENST00000576214.3:n.247+2_248del
ENST00000576544.6:c.123+2_124del
ENST00000615544.5:c.123+2_124del
ENST00000644774.2:c.123+2_124-27del
ENST00000679410.1:n.247+2_248del
ENST00000679480.1:c.123+2_124del
ENST00000679535.1:n.247+2_248del
ENST00000679778.1:c.123+2_124del
ENST00000680227.1:c.123+2_124del
ENST00000680727.1:c.123+2_124del
ENST00000681052.1:c.123+2_124del
ENST00000681092.1:c.107+18_108del
ENST00000681842.1:c.123+2_124del
ENST00000331925.6:c.123+2_124del
ENST00000570382.1:c.123+2_124del
ENST00000571691.5:c.123+2_124-27del
ENST00000571721.5:c.123+2_124del
ENST00000572105.6:c.123+2_124del
ENST00000573283.5:c.123+2_124del
ENST00000575087.5:c.123+2_124del
ENST00000575659.5:c.123+2_124del
ENST00000575842.5:c.123+2_124del
ENST00000575994.5:c.123+2_124del
ENST00000576214.2:n.144+2_145del
ENST00000576544.5:c.123+2_124del
ENST00000576917.5:n.176+2_177del
ENST00000615544.4:c.123+2_124del
NM_001199954.1:c.123+2_124del
NM_001614.3:c.123+2_124del
NR_037688.1:n.262+2_263del
NM_001199954.2:c.123+2_124del
NM_001614.4:c.123+2_124del
NR_037688.2:n.195+2_196del
NM_001614.5:c.123+2_124del
NR_037688.3:n.195+2_196del
NM_001199954.3:c.123+2_124del