Canonical Allele Identifier: CA2840364168

Gene: ACTN3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66560362dup , CM000673.2:g.66560362dup	GRCh38
NC_000011.9:g.66327833dup , CM000673.1:g.66327833dup	GRCh37
NC_000011.8:g.66084409dup	NCBI36
NG_013304.2:g.18443dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000513398.2:c.1677+51dup MANE Select	ENSP00000426797.1:n.1677+51dup
ENST00000502692.5:c.1806+51dup	ENSP00000422007.1:n.1806+51dup
ENST00000513398.1:c.1677+51dup	ENSP00000426797.1:n.1677+51dup
NM_001104.3:c.1677+51dup	NP_001095.2:n.1677+51dup
NM_001258371.2:c.1806+51dup	NP_001245300.2:n.1806+51dup
NM_001104.4:c.1677+51dup MANE Select	NP_001095.2:n.1677+51dup
NM_001258371.3:c.1806+51dup	NP_001245300.2:n.1806+51dup