Canonical Allele Identifier: CA938984573
Gene: ACTN3 HGNC NCBI

Linked Data

dbSNP Id: rs1857736439
gnomAD v3: 11-66560679-C-CATA
gnomAD v4: 11-66560679-C-CATA
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66560679_66560680insATA , CM000673.2:g.66560679_66560680insATA GRCh38
NC_000011.9:g.66328150_66328151insATA , CM000673.1:g.66328150_66328151insATA GRCh37
NC_000011.8:g.66084726_66084727insATA NCBI36
NG_013304.2:g.18760_18761insATA

Transcript Alleles

HGVS Amino-acid Change
ENST00000513398.2:c.1784_1785insATA MANE Select ENSP00000426797.1:p.Thr596Ter
ENST00000502692.5:c.1913_1914insATA ENSP00000422007.1:p.Thr639Ter
ENST00000513398.1:c.1784_1785insATA ENSP00000426797.1:p.Thr596Ter
NM_001104.3:c.1784_1785insATA NP_001095.2:p.Thr596Ter
NM_001258371.2:c.1913_1914insATA NP_001245300.2:p.Thr639Ter
NM_001104.4:c.1784_1785insATA MANE Select NP_001095.2:p.Thr596Ter
NM_001258371.3:c.1913_1914insATA NP_001245300.2:p.Thr639Ter
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