Canonical Allele Identifier: CA2614513482

Gene: ACTN3

Linked Data

• gnomAD v4: 11-66560331-GGGAT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66560336_66560339del , CM000673.2:g.66560336_66560339del	GRCh38
NC_000011.9:g.66327807_66327810del , CM000673.1:g.66327807_66327810del	GRCh37
NC_000011.8:g.66084383_66084386del	NCBI36
NG_013304.2:g.18417_18420del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000513398.2:c.1677+25_1677+28del MANE Select	ENSP00000426797.1:n.1677+25_1677+28del
ENST00000502692.5:c.1806+25_1806+28del	ENSP00000422007.1:n.1806+25_1806+28del
ENST00000513398.1:c.1677+25_1677+28del	ENSP00000426797.1:n.1677+25_1677+28del
NM_001104.3:c.1677+25_1677+28del	NP_001095.2:n.1677+25_1677+28del
NM_001258371.2:c.1806+25_1806+28del	NP_001245300.2:n.1806+25_1806+28del
NM_001104.4:c.1677+25_1677+28del MANE Select	NP_001095.2:n.1677+25_1677+28del
NM_001258371.3:c.1806+25_1806+28del	NP_001245300.2:n.1806+25_1806+28del