Canonical Allele Identifier: CA6124869
Gene: ACTN3 HGNC NCBI

Linked Data

dbSNP Id: rs756645101
ExAC: 11:66328254 A / AC
gnomAD v2: 11-66328254-A-AC
gnomAD v3: 11-66560783-A-AC
gnomAD v4: 11-66560783-A-AC
MyVariant Identifiers: chr11:g.66328254_66328255insC (hg19) chr11:g.66560783_66560784insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66560788dup , CM000673.2:g.66560788dup GRCh38
NC_000011.9:g.66328259dup , CM000673.1:g.66328259dup GRCh37
NC_000011.8:g.66084835dup NCBI36
NG_013304.2:g.18869dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000513398.2:c.1860+33dup MANE Select ENSP00000426797.1:n.1860+33dup
ENST00000502692.5:c.1989+33dup ENSP00000422007.1:n.1989+33dup
ENST00000513398.1:c.1860+33dup ENSP00000426797.1:n.1860+33dup
NM_001104.3:c.1860+33dup NP_001095.2:n.1860+33dup
NM_001258371.2:c.1989+33dup NP_001245300.2:n.1989+33dup
NM_001104.4:c.1860+33dup MANE Select NP_001095.2:n.1860+33dup
NM_001258371.3:c.1989+33dup NP_001245300.2:n.1989+33dup
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