Canonical Allele Identifier: CA2614514379

Gene: ACTN3

Linked Data

• gnomAD v4: 11-66560699-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66560701del , CM000673.2:g.66560701del	GRCh38
NC_000011.9:g.66328172del , CM000673.1:g.66328172del	GRCh37
NC_000011.8:g.66084748del	NCBI36
NG_013304.2:g.18782del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000513398.2:c.1806del MANE Select	ENSP00000426797.1:p.Thr603ProfsTer?
ENST00000502692.5:c.1935del	ENSP00000422007.1:p.Thr646ProfsTer?
ENST00000513398.1:c.1806del	ENSP00000426797.1:p.Thr603ProfsTer?
NM_001104.3:c.1806del	NP_001095.2:p.Thr603ProfsTer?
NM_001258371.2:c.1935del	NP_001245300.2:p.Thr646ProfsTer?
NM_001104.4:c.1806del MANE Select	NP_001095.2:p.Thr603ProfsTer?
NM_001258371.3:c.1935del	NP_001245300.2:p.Thr646ProfsTer?