Canonical Allele Identifier: CA1979720819

Gene: ACTN3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66560409_66560410delinsAG , CM000673.2:g.66560409_66560410delinsAG	GRCh38
NC_000011.9:g.66327880_66327881delinsAG , CM000673.1:g.66327880_66327881delinsAG	GRCh37
NC_000011.8:g.66084456_66084457delinsAG	NCBI36
NG_013304.2:g.18490_18491delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000513398.2:c.1677+98_1677+99delinsAG MANE Select	ENSP00000426797.1:n.1677+98_1677+99delinsAG
ENST00000502692.5:c.1806+98_1806+99delinsAG	ENSP00000422007.1:n.1806+98_1806+99delinsAG
ENST00000513398.1:c.1677+98_1677+99delinsAG	ENSP00000426797.1:n.1677+98_1677+99delinsAG
NM_001104.3:c.1677+98_1677+99delinsAG	NP_001095.2:n.1677+98_1677+99delinsAG
NM_001258371.2:c.1806+98_1806+99delinsAG	NP_001245300.2:n.1806+98_1806+99delinsAG
NM_001104.4:c.1677+98_1677+99delinsAG MANE Select	NP_001095.2:n.1677+98_1677+99delinsAG
NM_001258371.3:c.1806+98_1806+99delinsAG	NP_001245300.2:n.1806+98_1806+99delinsAG