Canonical Allele Identifier: CA600232698
Gene: ACTN3 HGNC NCBI

Linked Data

dbSNP Id: rs1227357437
gnomAD v2: 11-66328118-C-CATCCAGGGTGAG
gnomAD v3: 11-66560647-C-CATCCAGGGTGAG
gnomAD v4: 11-66560647-C-CATCCAGGGTGAG
MyVariant Identifiers: chr11:g.66328118_66328119insATCCAGGGTGAG (hg19) chr11:g.66560647_66560648insATCCAGGGTGAG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66560654_66560665dup , CM000673.2:g.66560654_66560665dup GRCh38
NC_000011.9:g.66328125_66328136dup , CM000673.1:g.66328125_66328136dup GRCh37
NC_000011.8:g.66084701_66084712dup NCBI36
NG_013304.2:g.18735_18746dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000513398.2:c.1759_1770dup MANE Select ENSP00000426797.1:p.Gln590_Lys591insGlyGluIleGln
ENST00000502692.5:c.1888_1899dup ENSP00000422007.1:p.Gln633_Lys634insGlyGluIleGln
ENST00000513398.1:c.1759_1770dup ENSP00000426797.1:p.Gln590_Lys591insGlyGluIleGln
NM_001104.3:c.1759_1770dup NP_001095.2:p.Gln590_Lys591insGlyGluIleGln
NM_001258371.2:c.1888_1899dup NP_001245300.2:p.Gln633_Lys634insGlyGluIleGln
NM_001104.4:c.1759_1770dup MANE Select NP_001095.2:p.Gln590_Lys591insGlyGluIleGln
NM_001258371.3:c.1888_1899dup NP_001245300.2:p.Gln633_Lys634insGlyGluIleGln
Search 100 bp 5'
Search 100 bp 3'