Canonical Allele Identifier: CA2614513711
Gene: ACTN3 HGNC NCBI

Linked Data

gnomAD v4: 11-66560430-TGCTGG-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66560436_66560440del , CM000673.2:g.66560436_66560440del GRCh38
NC_000011.9:g.66327907_66327911del , CM000673.1:g.66327907_66327911del GRCh37
NC_000011.8:g.66084483_66084487del NCBI36
NG_013304.2:g.18517_18521del

Transcript Alleles

HGVS Amino-acid change
ENST00000513398.2:c.1677+125_1677+129del MANE Select ENSP00000426797.1:n.1677+125_1677+129del
ENST00000502692.5:c.1806+125_1806+129del ENSP00000422007.1:n.1806+125_1806+129del
ENST00000513398.1:c.1677+125_1677+129del ENSP00000426797.1:n.1677+125_1677+129del
NM_001104.3:c.1677+125_1677+129del NP_001095.2:n.1677+125_1677+129del
NM_001258371.2:c.1806+125_1806+129del NP_001245300.2:n.1806+125_1806+129del
NM_001104.4:c.1677+125_1677+129del MANE Select NP_001095.2:n.1677+125_1677+129del
NM_001258371.3:c.1806+125_1806+129del NP_001245300.2:n.1806+125_1806+129del
Search 100 bp 5'
Search 100 bp 3'