Canonical Allele Identifier: CA2792479695

Gene: ACTN3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66560815_66560816insAG , CM000673.2:g.66560815_66560816insAG	GRCh38
NC_000011.9:g.66328286_66328287insAG , CM000673.1:g.66328286_66328287insAG	GRCh37
NC_000011.8:g.66084862_66084863insAG	NCBI36
NG_013304.2:g.18896_18897insAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000513398.2:c.1860+60_1860+61insAG MANE Select	ENSP00000426797.1:n.1860+60_1860+61insAG
ENST00000502692.5:c.1989+60_1989+61insAG	ENSP00000422007.1:n.1989+60_1989+61insAG
ENST00000513398.1:c.1860+60_1860+61insAG	ENSP00000426797.1:n.1860+60_1860+61insAG
NM_001104.3:c.1860+60_1860+61insAG	NP_001095.2:n.1860+60_1860+61insAG
NM_001258371.2:c.1989+60_1989+61insAG	NP_001245300.2:n.1989+60_1989+61insAG
NM_001104.4:c.1860+60_1860+61insAG MANE Select	NP_001095.2:n.1860+60_1860+61insAG
NM_001258371.3:c.1989+60_1989+61insAG	NP_001245300.2:n.1989+60_1989+61insAG