Canonical Allele Identifier: CA2614514546
Gene: ACTN3 HGNC NCBI

Linked Data

gnomAD v4: 11-66560806-AC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66560809del , CM000673.2:g.66560809del GRCh38
NC_000011.9:g.66328280del , CM000673.1:g.66328280del GRCh37
NC_000011.8:g.66084856del NCBI36
NG_013304.2:g.18890del

Transcript Alleles

HGVS Amino-acid Change
ENST00000513398.2:c.1860+54del MANE Select ENSP00000426797.1:n.1860+54del
ENST00000502692.5:c.1989+54del ENSP00000422007.1:n.1989+54del
ENST00000513398.1:c.1860+54del ENSP00000426797.1:n.1860+54del
NM_001104.3:c.1860+54del NP_001095.2:n.1860+54del
NM_001258371.2:c.1989+54del NP_001245300.2:n.1989+54del
NM_001104.4:c.1860+54del MANE Select NP_001095.2:n.1860+54del
NM_001258371.3:c.1989+54del NP_001245300.2:n.1989+54del
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