Canonical Allele Identifier: CA2574888144
Gene: ACTN3 HGNC NCBI

Linked Data

gnomAD v4: 11-66560541-AC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66560543del , CM000673.2:g.66560543del GRCh38
NC_000011.9:g.66328014del , CM000673.1:g.66328014del GRCh37
NC_000011.8:g.66084590del NCBI36
NG_013304.2:g.18624del

Transcript Alleles

HGVS Amino-acid Change
ENST00000513398.2:c.1678-30del MANE Select ENSP00000426797.1:n.1678-30del
ENST00000502692.5:c.1807-30del ENSP00000422007.1:n.1807-30del
ENST00000513398.1:c.1678-30del ENSP00000426797.1:n.1678-30del
NM_001104.3:c.1678-30del NP_001095.2:n.1678-30del
NM_001258371.2:c.1807-30del NP_001245300.2:n.1807-30del
NM_001104.4:c.1678-30del MANE Select NP_001095.2:n.1678-30del
NM_001258371.3:c.1807-30del NP_001245300.2:n.1807-30del
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