Canonical Allele Identifier: CA2614514566

Gene: ACTN3

Linked Data

• gnomAD v4: 11-66560813-A-AAGATGATGCAACC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66560814_66560815insGATGATGCAACCA , CM000673.2:g.66560814_66560815insGATGATGCAACCA	GRCh38
NC_000011.9:g.66328285_66328286insGATGATGCAACCA , CM000673.1:g.66328285_66328286insGATGATGCAACCA	GRCh37
NC_000011.8:g.66084861_66084862insGATGATGCAACCA	NCBI36
NG_013304.2:g.18895_18896insGATGATGCAACCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000513398.2:c.1860+59_1860+60insGATGATGCAACCA MANE Select	ENSP00000426797.1:n.1860+59_1860+60insGATGATGCAACCA
ENST00000502692.5:c.1989+59_1989+60insGATGATGCAACCA	ENSP00000422007.1:n.1989+59_1989+60insGATGATGCAACCA
ENST00000513398.1:c.1860+59_1860+60insGATGATGCAACCA	ENSP00000426797.1:n.1860+59_1860+60insGATGATGCAACCA
NM_001104.3:c.1860+59_1860+60insGATGATGCAACCA	NP_001095.2:n.1860+59_1860+60insGATGATGCAACCA
NM_001258371.2:c.1989+59_1989+60insGATGATGCAACCA	NP_001245300.2:n.1989+59_1989+60insGATGATGCAACCA
NM_001104.4:c.1860+59_1860+60insGATGATGCAACCA MANE Select	NP_001095.2:n.1860+59_1860+60insGATGATGCAACCA
NM_001258371.3:c.1989+59_1989+60insGATGATGCAACCA	NP_001245300.2:n.1989+59_1989+60insGATGATGCAACCA