Canonical Allele Identifier: CA2614513793

Gene: ACTN3

Linked Data

• gnomAD v4: 11-66560461-T-TTG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66560465_66560466dup , CM000673.2:g.66560465_66560466dup	GRCh38
NC_000011.9:g.66327936_66327937dup , CM000673.1:g.66327936_66327937dup	GRCh37
NC_000011.8:g.66084512_66084513dup	NCBI36
NG_013304.2:g.18546_18547dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000513398.2:c.1678-108_1678-107dup MANE Select	ENSP00000426797.1:n.1678-108_1678-107dup
ENST00000502692.5:c.1807-108_1807-107dup	ENSP00000422007.1:n.1807-108_1807-107dup
ENST00000513398.1:c.1678-108_1678-107dup	ENSP00000426797.1:n.1678-108_1678-107dup
NM_001104.3:c.1678-108_1678-107dup	NP_001095.2:n.1678-108_1678-107dup
NM_001258371.2:c.1807-108_1807-107dup	NP_001245300.2:n.1807-108_1807-107dup
NM_001104.4:c.1678-108_1678-107dup MANE Select	NP_001095.2:n.1678-108_1678-107dup
NM_001258371.3:c.1807-108_1807-107dup	NP_001245300.2:n.1807-108_1807-107dup