Canonical Allele Identifier: CA2551857576

Gene: ACTN3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66560713del , CM000673.2:g.66560713del	GRCh38
NC_000011.9:g.66328184del , CM000673.1:g.66328184del	GRCh37
NC_000011.8:g.66084760del	NCBI36
NG_013304.2:g.18794del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000513398.2:c.1818del MANE Select	ENSP00000426797.1:p.Tyr606Ter
ENST00000502692.5:c.1947del	ENSP00000422007.1:p.Tyr649Ter
ENST00000513398.1:c.1818del	ENSP00000426797.1:p.Tyr606Ter
NM_001104.3:c.1818del	NP_001095.2:p.Tyr606Ter
NM_001258371.2:c.1947del	NP_001245300.2:p.Tyr649Ter
NM_001104.4:c.1818del MANE Select	NP_001095.2:p.Tyr606Ter
NM_001258371.3:c.1947del	NP_001245300.2:p.Tyr649Ter