Canonical Allele Identifier: CA2625405067

Gene: ACTN1

Linked Data

• gnomAD v4: 14-68925550-CGCCTCACCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.68925552_68925560del , CM000676.2:g.68925552_68925560del	GRCh38
NC_000014.8:g.69392269_69392277del , CM000676.1:g.69392269_69392277del	GRCh37
NC_000014.7:g.68462022_68462030del	NCBI36
NG_029480.1:g.58808_58816del , LRG_886:g.58808_58816del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000554508.6:c.24_25+7del
ENST00000682130.1:n.507_508+7del
ENST00000682291.1:c.219_220+7del
ENST00000682298.1:n.507_508+7del
ENST00000682331.1:c.219_220+7del
ENST00000682378.1:n.507_508+7del
ENST00000682381.1:n.507_508+7del
ENST00000682559.1:c.219_220+7del
ENST00000682602.1:n.313_314+7del
ENST00000683069.1:n.507_508+7del
ENST00000683198.1:c.219_220+7del
ENST00000683225.1:c.24_25+7del
ENST00000683261.1:n.507_508+7del
ENST00000683267.1:c.219_220+7del
ENST00000683342.1:c.219_220+7del
ENST00000683780.1:n.507_508+7del
ENST00000684146.1:n.507_508+7del
ENST00000684182.1:c.24_25+7del
ENST00000684340.1:n.507_508+7del
ENST00000684598.1:c.219_220+7del
ENST00000684638.1:c.219_220+7del
ENST00000684639.1:c.219_220+7del
ENST00000684713.1:c.219_220+7del
ENST00000394419.9:c.219_220+7del
ENST00000679147.1:c.219_220+7del
ENST00000193403.10:c.219_220+7del
ENST00000376839.7:c.24_25+7del
ENST00000394419.8:c.219_220+7del
ENST00000438964.6:c.219_220+7del
ENST00000538545.6:c.219_220+7del
ENST00000553370.5:c.24_25+7del
ENST00000553779.5:c.24_25+7del
ENST00000555616.5:c.24_25+7del
ENST00000556433.5:c.156_157+7del
ENST00000556571.1:c.150_151+7del
NM_001102.3:c.219_220+7del
NM_001130004.1:c.219_220+7del , LRG_886t1:c.219_220+7del
NM_001130005.1:c.219_220+7del
XM_011537265.1:c.306_307+7del
XM_011537266.1:c.306_307+7del
XM_011537267.1:c.306_307+7del
XM_011537268.1:c.306_307+7del
XM_011537269.1:c.219_220+7del
XM_011537270.1:c.156_157+7del
XM_011537271.1:c.156_157+7del
XM_011537265.2:c.306_307+7del
XM_011537266.3:c.306_307+7del
XM_011537267.3:c.306_307+7del
XM_011537268.3:c.306_307+7del
XM_017021720.1:c.306_307+7del
XM_017021721.2:c.306_307+7del
XM_017021722.2:c.219_220+7del
XM_017021723.2:c.219_220+7del
XM_017021725.1:c.156_157+7del
XM_017021726.2:c.156_157+7del
XM_017021727.2:c.219_220+7del
XM_017021728.2:c.156_157+7del
NM_001102.4:c.219_220+7del
NM_001130005.2:c.219_220+7del
NM_001130004.2:c.219_220+7del