Canonical Allele Identifier: CA1979720864

Gene: ACTN3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66560433_66560434delinsTG , CM000673.2:g.66560433_66560434delinsTG	GRCh38
NC_000011.9:g.66327904_66327905delinsTG , CM000673.1:g.66327904_66327905delinsTG	GRCh37
NC_000011.8:g.66084480_66084481delinsTG	NCBI36
NG_013304.2:g.18514_18515delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000513398.2:c.1677+122_1677+123delinsTG MANE Select	ENSP00000426797.1:n.1677+122_1677+123delinsTG
ENST00000502692.5:c.1806+122_1806+123delinsTG	ENSP00000422007.1:n.1806+122_1806+123delinsTG
ENST00000513398.1:c.1677+122_1677+123delinsTG	ENSP00000426797.1:n.1677+122_1677+123delinsTG
NM_001104.3:c.1677+122_1677+123delinsTG	NP_001095.2:n.1677+122_1677+123delinsTG
NM_001258371.2:c.1806+122_1806+123delinsTG	NP_001245300.2:n.1806+122_1806+123delinsTG
NM_001104.4:c.1677+122_1677+123delinsTG MANE Select	NP_001095.2:n.1677+122_1677+123delinsTG
NM_001258371.3:c.1806+122_1806+123delinsTG	NP_001245300.2:n.1806+122_1806+123delinsTG