Canonical Allele Identifier: CA2792479697

Gene: ACTN3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66560818_66560819insTCAACGATTCTGTAACCCCCATGAGCCCCTGACCC , CM000673.2:g.66560818_66560819insTCAACGATTCTGTAACCCCCATGAGCCCCTGACCC	GRCh38
NC_000011.9:g.66328289_66328290insTCAACGATTCTGTAACCCCCATGAGCCCCTGACCC , CM000673.1:g.66328289_66328290insTCAACGATTCTGTAACCCCCATGAGCCCCTGACCC	GRCh37
NC_000011.8:g.66084865_66084866insTCAACGATTCTGTAACCCCCATGAGCCCCTGACCC	NCBI36
NG_013304.2:g.18899_18900insTCAACGATTCTGTAACCCCCATGAGCCCCTGACCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000513398.2:c.1860+63_1860+64insTCAACGATTCTGTAACCCCCATGAGCCCCTGACCC MANE Select	ENSP00000426797.1:n.1860+63_1860+64insTCAACGATTCTGTAACCCCCATG...
ENST00000502692.5:c.1989+63_1989+64insTCAACGATTCTGTAACCCCCATGAGCCCCTGACCC	ENSP00000422007.1:n.1989+63_1989+64insTCAACGATTCTGTAACCCCCATG...
ENST00000513398.1:c.1860+63_1860+64insTCAACGATTCTGTAACCCCCATGAGCCCCTGACCC	ENSP00000426797.1:n.1860+63_1860+64insTCAACGATTCTGTAACCCCCATG...
NM_001104.3:c.1860+63_1860+64insTCAACGATTCTGTAACCCCCATGAGCCCCTGACCC	NP_001095.2:n.1860+63_1860+64insTCAACGATTCTGTAACCCCCATGAGCCCC...
NM_001258371.2:c.1989+63_1989+64insTCAACGATTCTGTAACCCCCATGAGCCCCTGACCC	NP_001245300.2:n.1989+63_1989+64insTCAACGATTCTGTAACCCCCATGAGC...
NM_001104.4:c.1860+63_1860+64insTCAACGATTCTGTAACCCCCATGAGCCCCTGACCC MANE Select	NP_001095.2:n.1860+63_1860+64insTCAACGATTCTGTAACCCCCATGAGCCCC...
NM_001258371.3:c.1989+63_1989+64insTCAACGATTCTGTAACCCCCATGAGCCCCTGACCC	NP_001245300.2:n.1989+63_1989+64insTCAACGATTCTGTAACCCCCATGAGC...