Canonical Allele Identifier: CA2741182167

Gene: ACTN3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66560330_66560331insAAGAGGAAGGTGAGGCTCAGCAGGACGGAGGCCCCTCAGTAAAAGTAGAACCTCATCTGGAATGC , CM000673.2:g.66560330_66560331insAAGAGGAAGGTGAGGCTCAGCAGGACGGAGGCCCCTCAGTAAAAGTAGAACCTCATCTGGAATGC	GRCh38
NC_000011.9:g.66327801_66327802insAAGAGGAAGGTGAGGCTCAGCAGGACGGAGGCCCCTCAGTAAAAGTAGAACCTCATCTGGAATGC , CM000673.1:g.66327801_66327802insAAGAGGAAGGTGAGGCTCAGCAGGACGGAGGCCCCTCAGTAAAAGTAGAACCTCATCTGGAATGC	GRCh37
NC_000011.8:g.66084377_66084378insAAGAGGAAGGTGAGGCTCAGCAGGACGGAGGCCCCTCAGTAAAAGTAGAACCTCATCTGGAATGC	NCBI36
NG_013304.2:g.18411_18412insAAGAGGAAGGTGAGGCTCAGCAGGACGGAGGCCCCTCAGTAAAAGTAGAACCTCATCTGGAATGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000513398.2:c.1677+19_1677+20insAAGAGGAAGGTGAGGCTCAGCAGGACGGAGGCCCCTCAGTAAAAGTAGAACCTCATCTGGAATGC MANE Select	ENSP00000426797.1:n.1677+19_1677+20insAAGAGGAAGGTGAGGCTCAGCAG...
ENST00000502692.5:c.1806+19_1806+20insAAGAGGAAGGTGAGGCTCAGCAGGACGGAGGCCCCTCAGTAAAAGTAGAACCTCATCTGGAATGC	ENSP00000422007.1:n.1806+19_1806+20insAAGAGGAAGGTGAGGCTCAGCAG...
ENST00000513398.1:c.1677+19_1677+20insAAGAGGAAGGTGAGGCTCAGCAGGACGGAGGCCCCTCAGTAAAAGTAGAACCTCATCTGGAATGC	ENSP00000426797.1:n.1677+19_1677+20insAAGAGGAAGGTGAGGCTCAGCAG...
NM_001104.3:c.1677+19_1677+20insAAGAGGAAGGTGAGGCTCAGCAGGACGGAGGCCCCTCAGTAAAAGTAGAACCTCATCTGGAATGC	NP_001095.2:n.1677+19_1677+20insAAGAGGAAGGTGAGGCTCAGCAGGACGGA...
NM_001258371.2:c.1806+19_1806+20insAAGAGGAAGGTGAGGCTCAGCAGGACGGAGGCCCCTCAGTAAAAGTAGAACCTCATCTGGAATGC	NP_001245300.2:n.1806+19_1806+20insAAGAGGAAGGTGAGGCTCAGCAGGAC...
NM_001104.4:c.1677+19_1677+20insAAGAGGAAGGTGAGGCTCAGCAGGACGGAGGCCCCTCAGTAAAAGTAGAACCTCATCTGGAATGC MANE Select	NP_001095.2:n.1677+19_1677+20insAAGAGGAAGGTGAGGCTCAGCAGGACGGA...
NM_001258371.3:c.1806+19_1806+20insAAGAGGAAGGTGAGGCTCAGCAGGACGGAGGCCCCTCAGTAAAAGTAGAACCTCATCTGGAATGC	NP_001245300.2:n.1806+19_1806+20insAAGAGGAAGGTGAGGCTCAGCAGGAC...