Canonical Allele Identifier: CA2614514477

Gene: ACTN3

Linked Data

• gnomAD v4: 11-66560779-T-TCCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66560783_66560786dup , CM000673.2:g.66560783_66560786dup	GRCh38
NC_000011.9:g.66328254_66328257dup , CM000673.1:g.66328254_66328257dup	GRCh37
NC_000011.8:g.66084830_66084833dup	NCBI36
NG_013304.2:g.18864_18867dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000513398.2:c.1860+28_1860+31dup MANE Select	ENSP00000426797.1:n.1860+28_1860+31dup
ENST00000502692.5:c.1989+28_1989+31dup	ENSP00000422007.1:n.1989+28_1989+31dup
ENST00000513398.1:c.1860+28_1860+31dup	ENSP00000426797.1:n.1860+28_1860+31dup
NM_001104.3:c.1860+28_1860+31dup	NP_001095.2:n.1860+28_1860+31dup
NM_001258371.2:c.1989+28_1989+31dup	NP_001245300.2:n.1989+28_1989+31dup
NM_001104.4:c.1860+28_1860+31dup MANE Select	NP_001095.2:n.1860+28_1860+31dup
NM_001258371.3:c.1989+28_1989+31dup	NP_001245300.2:n.1989+28_1989+31dup