Canonical Allele Identifier: CA6124819

Gene: ACTN3

Linked Data

• dbSNP Id: rs764782122
• ExAC: 11:66327832 CCA / C
• gnomAD v2: 11-66327832-CCA-C
• MyVariant Identifiers: chr11:g.66327833_66327834del (hg19) ; chr11:g.66560362_66560363del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66560362_66560363del , CM000673.2:g.66560362_66560363del	GRCh38
NC_000011.9:g.66327833_66327834del , CM000673.1:g.66327833_66327834del	GRCh37
NC_000011.8:g.66084409_66084410del	NCBI36
NG_013304.2:g.18443_18444del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000513398.2:c.1677+51_1677+52del MANE Select	ENSP00000426797.1:n.1677+51_1677+52del
ENST00000502692.5:c.1806+51_1806+52del	ENSP00000422007.1:n.1806+51_1806+52del
ENST00000513398.1:c.1677+51_1677+52del	ENSP00000426797.1:n.1677+51_1677+52del
NM_001104.3:c.1677+51_1677+52del	NP_001095.2:n.1677+51_1677+52del
NM_001258371.2:c.1806+51_1806+52del	NP_001245300.2:n.1806+51_1806+52del
NM_001104.4:c.1677+51_1677+52del MANE Select	NP_001095.2:n.1677+51_1677+52del
NM_001258371.3:c.1806+51_1806+52del	NP_001245300.2:n.1806+51_1806+52del