Canonical Allele Identifier: CA1979720922

Gene: ACTN3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66560481_66560492delinsACTGGTGGGTGG , CM000673.2:g.66560481_66560492delinsACTGGTGGGTGG	GRCh38
NC_000011.9:g.66327952_66327963delinsACTGGTGGGTGG , CM000673.1:g.66327952_66327963delinsACTGGTGGGTGG	GRCh37
NC_000011.8:g.66084528_66084539delinsACTGGTGGGTGG	NCBI36
NG_013304.2:g.18562_18573delinsACTGGTGGGTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000513398.2:c.1678-92_1678-81delinsACTGGTGGGTGG MANE Select	ENSP00000426797.1:n.1678-92_1678-81delinsACTGGTGGGTGG
ENST00000502692.5:c.1807-92_1807-81delinsACTGGTGGGTGG	ENSP00000422007.1:n.1807-92_1807-81delinsACTGGTGGGTGG
ENST00000513398.1:c.1678-92_1678-81delinsACTGGTGGGTGG	ENSP00000426797.1:n.1678-92_1678-81delinsACTGGTGGGTGG
NM_001104.3:c.1678-92_1678-81delinsACTGGTGGGTGG	NP_001095.2:n.1678-92_1678-81delinsACTGGTGGGTGG
NM_001258371.2:c.1807-92_1807-81delinsACTGGTGGGTGG	NP_001245300.2:n.1807-92_1807-81delinsACTGGTGGGTGG
NM_001104.4:c.1678-92_1678-81delinsACTGGTGGGTGG MANE Select	NP_001095.2:n.1678-92_1678-81delinsACTGGTGGGTGG
NM_001258371.3:c.1807-92_1807-81delinsACTGGTGGGTGG	NP_001245300.2:n.1807-92_1807-81delinsACTGGTGGGTGG