Canonical Allele Identifier: CA679419954

Gene: ACTN3

Linked Data

• dbSNP Id: rs1196030697
• gnomAD v3: 11-66560511-CCTTT-C
• gnomAD v4: 11-66560511-CCTTT-C
• MyVariant Identifiers: chr11:g.66327983_66327986del (hg19) ; chr11:g.66560512_66560515del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66560514_66560517del , CM000673.2:g.66560514_66560517del	GRCh38
NC_000011.9:g.66327985_66327988del , CM000673.1:g.66327985_66327988del	GRCh37
NC_000011.8:g.66084561_66084564del	NCBI36
NG_013304.2:g.18595_18598del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000513398.2:c.1678-59_1678-56del MANE Select	ENSP00000426797.1:n.1678-59_1678-56del
ENST00000502692.5:c.1807-59_1807-56del	ENSP00000422007.1:n.1807-59_1807-56del
ENST00000513398.1:c.1678-59_1678-56del	ENSP00000426797.1:n.1678-59_1678-56del
NM_001104.3:c.1678-59_1678-56del	NP_001095.2:n.1678-59_1678-56del
NM_001258371.2:c.1807-59_1807-56del	NP_001245300.2:n.1807-59_1807-56del
NM_001104.4:c.1678-59_1678-56del MANE Select	NP_001095.2:n.1678-59_1678-56del
NM_001258371.3:c.1807-59_1807-56del	NP_001245300.2:n.1807-59_1807-56del