Canonical Allele Identifier: CA1979721755

Gene: ACTN3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66560741_66560742delinsAC , CM000673.2:g.66560741_66560742delinsAC	GRCh38
NC_000011.9:g.66328212_66328213delinsAC , CM000673.1:g.66328212_66328213delinsAC	GRCh37
NC_000011.8:g.66084788_66084789delinsAC	NCBI36
NG_013304.2:g.18822_18823delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000513398.2:c.1846_1847delinsAC MANE Select	ENSP00000426797.1:p.Thr616=
ENST00000502692.5:c.1975_1976delinsAC	ENSP00000422007.1:p.Thr659=
ENST00000513398.1:c.1846_1847delinsAC	ENSP00000426797.1:p.Thr616=
NM_001104.3:c.1846_1847delinsAC	NP_001095.2:p.Thr616=
NM_001258371.2:c.1975_1976delinsAC	NP_001245300.2:p.Thr659=
NM_001104.4:c.1846_1847delinsAC MANE Select	NP_001095.2:p.Thr616=
NM_001258371.3:c.1975_1976delinsAC	NP_001245300.2:p.Thr659=