Canonical Allele Identifier: CA2614513440
Gene: ACTN3 HGNC NCBI

Linked Data

gnomAD v4: 11-66560298-TGGA-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66560303_66560305del , CM000673.2:g.66560303_66560305del GRCh38
NC_000011.9:g.66327774_66327776del , CM000673.1:g.66327774_66327776del GRCh37
NC_000011.8:g.66084350_66084352del NCBI36
NG_013304.2:g.18384_18386del

Transcript Alleles

HGVS Amino-acid Change
ENST00000513398.2:c.1669_1671del MANE Select ENSP00000426797.1:p.Glu557del
ENST00000502692.5:c.1798_1800del ENSP00000422007.1:p.Glu600del
ENST00000513398.1:c.1669_1671del ENSP00000426797.1:p.Glu557del
NM_001104.3:c.1669_1671del NP_001095.2:p.Glu557del
NM_001258371.2:c.1798_1800del NP_001245300.2:p.Glu600del
NM_001104.4:c.1669_1671del MANE Select NP_001095.2:p.Glu557del
NM_001258371.3:c.1798_1800del NP_001245300.2:p.Glu600del
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