Canonical Allele Identifier: CA1979720932

Gene: ACTN3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66560495_66560496delinsTG , CM000673.2:g.66560495_66560496delinsTG	GRCh38
NC_000011.9:g.66327966_66327967delinsTG , CM000673.1:g.66327966_66327967delinsTG	GRCh37
NC_000011.8:g.66084542_66084543delinsTG	NCBI36
NG_013304.2:g.18576_18577delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000513398.2:c.1678-78_1678-77delinsTG MANE Select	ENSP00000426797.1:n.1678-78_1678-77delinsTG
ENST00000502692.5:c.1807-78_1807-77delinsTG	ENSP00000422007.1:n.1807-78_1807-77delinsTG
ENST00000513398.1:c.1678-78_1678-77delinsTG	ENSP00000426797.1:n.1678-78_1678-77delinsTG
NM_001104.3:c.1678-78_1678-77delinsTG	NP_001095.2:n.1678-78_1678-77delinsTG
NM_001258371.2:c.1807-78_1807-77delinsTG	NP_001245300.2:n.1807-78_1807-77delinsTG
NM_001104.4:c.1678-78_1678-77delinsTG MANE Select	NP_001095.2:n.1678-78_1678-77delinsTG
NM_001258371.3:c.1807-78_1807-77delinsTG	NP_001245300.2:n.1807-78_1807-77delinsTG