Canonical Allele Identifier: CA2614514522

Gene: ACTN3

Linked Data

• gnomAD v4: 11-66560796-TACTGTGACCACCCTGAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66560798_66560814del , CM000673.2:g.66560798_66560814del	GRCh38
NC_000011.9:g.66328269_66328285del , CM000673.1:g.66328269_66328285del	GRCh37
NC_000011.8:g.66084845_66084861del	NCBI36
NG_013304.2:g.18879_18895del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000513398.2:c.1860+43_1860+59del MANE Select	ENSP00000426797.1:n.1860+43_1860+59del
ENST00000502692.5:c.1989+43_1989+59del	ENSP00000422007.1:n.1989+43_1989+59del
ENST00000513398.1:c.1860+43_1860+59del	ENSP00000426797.1:n.1860+43_1860+59del
NM_001104.3:c.1860+43_1860+59del	NP_001095.2:n.1860+43_1860+59del
NM_001258371.2:c.1989+43_1989+59del	NP_001245300.2:n.1989+43_1989+59del
NM_001104.4:c.1860+43_1860+59del MANE Select	NP_001095.2:n.1860+43_1860+59del
NM_001258371.3:c.1989+43_1989+59del	NP_001245300.2:n.1989+43_1989+59del