Canonical Allele Identifier: CA224075717
Gene: ACTN3 HGNC NCBI

Linked Data

dbSNP Id: rs765950212
MyVariant Identifiers: chr11:g.66327905del (hg19) chr11:g.66560434del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66560436del , CM000673.2:g.66560436del GRCh38
NC_000011.9:g.66327907del , CM000673.1:g.66327907del GRCh37
NC_000011.8:g.66084483del NCBI36
NG_013304.2:g.18517del

Transcript Alleles

HGVS Amino-acid change
ENST00000513398.2:c.1677+125del MANE Select ENSP00000426797.1:n.1677+125del
ENST00000502692.5:c.1806+125del ENSP00000422007.1:n.1806+125del
ENST00000513398.1:c.1677+125del ENSP00000426797.1:n.1677+125del
NM_001104.3:c.1677+125del NP_001095.2:n.1677+125del
NM_001258371.2:c.1806+125del NP_001245300.2:n.1806+125del
NM_001104.4:c.1677+125del MANE Select NP_001095.2:n.1677+125del
NM_001258371.3:c.1806+125del NP_001245300.2:n.1806+125del
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