Canonical Allele Identifier: CA1979720671

Gene: ACTN3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66560335_66560348delinsTGGATAGGATGACA , CM000673.2:g.66560335_66560348delinsTGGATAGGATGACA	GRCh38
NC_000011.9:g.66327806_66327819delinsTGGATAGGATGACA , CM000673.1:g.66327806_66327819delinsTGGATAGGATGACA	GRCh37
NC_000011.8:g.66084382_66084395delinsTGGATAGGATGACA	NCBI36
NG_013304.2:g.18416_18429delinsTGGATAGGATGACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000513398.2:c.1677+24_1677+37delinsTGGATAGGATGACA MANE Select	ENSP00000426797.1:n.1677+24_1677+37delinsTGGATAGGATGACA
ENST00000502692.5:c.1806+24_1806+37delinsTGGATAGGATGACA	ENSP00000422007.1:n.1806+24_1806+37delinsTGGATAGGATGACA
ENST00000513398.1:c.1677+24_1677+37delinsTGGATAGGATGACA	ENSP00000426797.1:n.1677+24_1677+37delinsTGGATAGGATGACA
NM_001104.3:c.1677+24_1677+37delinsTGGATAGGATGACA	NP_001095.2:n.1677+24_1677+37delinsTGGATAGGATGACA
NM_001258371.2:c.1806+24_1806+37delinsTGGATAGGATGACA	NP_001245300.2:n.1806+24_1806+37delinsTGGATAGGATGACA
NM_001104.4:c.1677+24_1677+37delinsTGGATAGGATGACA MANE Select	NP_001095.2:n.1677+24_1677+37delinsTGGATAGGATGACA
NM_001258371.3:c.1806+24_1806+37delinsTGGATAGGATGACA	NP_001245300.2:n.1806+24_1806+37delinsTGGATAGGATGACA