Canonical Allele Identifier: CA679419889

Gene: ACTN3

Linked Data

• dbSNP Id: rs1283818788
• MyVariant Identifiers: chr11:g.66327807_66327819del (hg19) ; chr11:g.66560336_66560348del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66560339_66560351del , CM000673.2:g.66560339_66560351del	GRCh38
NC_000011.9:g.66327810_66327822del , CM000673.1:g.66327810_66327822del	GRCh37
NC_000011.8:g.66084386_66084398del	NCBI36
NG_013304.2:g.18420_18432del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000513398.2:c.1677+28_1677+40del MANE Select	ENSP00000426797.1:n.1677+28_1677+40del
ENST00000502692.5:c.1806+28_1806+40del	ENSP00000422007.1:n.1806+28_1806+40del
ENST00000513398.1:c.1677+28_1677+40del	ENSP00000426797.1:n.1677+28_1677+40del
NM_001104.3:c.1677+28_1677+40del	NP_001095.2:n.1677+28_1677+40del
NM_001258371.2:c.1806+28_1806+40del	NP_001245300.2:n.1806+28_1806+40del
NM_001104.4:c.1677+28_1677+40del MANE Select	NP_001095.2:n.1677+28_1677+40del
NM_001258371.3:c.1806+28_1806+40del	NP_001245300.2:n.1806+28_1806+40del