Canonical Allele Identifier: CA892906463

Gene: DGUOK DGUOK-AS1

Linked Data

• dbSNP Id: rs1270032510
• gnomAD v3: 2-73958746-T-TGAA
• gnomAD v4: 2-73958746-T-TGAA
• MyVariant Identifiers: chr2:g.74185873_74185874insGAA (hg19) ; chr2:g.73958746_73958747insGAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73958748_73958750dup , CM000664.2:g.73958748_73958750dup	GRCh38
NC_000002.11:g.74185875_74185877dup , CM000664.1:g.74185875_74185877dup	GRCh37
NC_000002.10:g.74039383_74039385dup	NCBI36
NG_008044.1:g.36923_36925dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264093.9:c.*12_*14dup (DGUOK) MANE Select	ENSP00000264093.4:n.*12_*14dup
ENST00000264093.8:c.*12_*14dup (DGUOK)	ENSP00000264093.4:n.*12_*14dup
ENST00000348222.3:c.*12_*14dup (DGUOK)	ENSP00000306964.3:n.*12_*14dup
ENST00000418996.5:c.*199_*201dup (DGUOK)	ENSP00000408209.1:n.*199_*201dup
ENST00000462685.1:n.675_677dup (DGUOK)
ENST00000629438.2:c.*463_*465dup (DGUOK)	ENSP00000487122.1:n.*463_*465dup
NM_080916.2:c.*12_*14dup (DGUOK)	NP_550438.1:n.*12_*14dup
NM_080918.2:c.*12_*14dup (DGUOK)	NP_550440.1:n.*12_*14dup
NR_104029.1:n.332-542_332-540dup (DGUOK-AS1)
NR_104030.1:n.306-542_306-540dup (DGUOK-AS1)
XM_005264173.2:c.*12_*14dup (DGUOK)	XP_005264230.1:n.*12_*14dup
XM_005264174.1:c.*12_*14dup (DGUOK)	XP_005264231.1:n.*12_*14dup
XM_011532647.1:c.*12_*14dup (DGUOK)	XP_011530949.1:n.*12_*14dup
XM_011532648.1:c.*12_*14dup (DGUOK)	XP_011530950.1:n.*12_*14dup
XR_244926.2:n.811_813dup (DGUOK)
NM_001318859.1:c.*12_*14dup (DGUOK)	NP_001305788.1:n.*12_*14dup
NM_001318860.1:c.*12_*14dup (DGUOK)	NP_001305789.1:n.*12_*14dup
NM_001318861.1:c.*12_*14dup (DGUOK)	NP_001305790.1:n.*12_*14dup
NM_001318862.1:c.*12_*14dup (DGUOK)	NP_001305791.1:n.*12_*14dup
NM_001318863.1:c.*12_*14dup (DGUOK)	NP_001305792.1:n.*12_*14dup
NR_134893.1:n.554_556dup (DGUOK)
NR_134894.1:n.702_704dup (DGUOK)
NR_134895.1:n.366_368dup (DGUOK)
NR_134896.1:n.536_538dup (DGUOK)
NR_134897.1:n.746_748dup (DGUOK)
NR_134898.1:n.670_672dup (DGUOK)
XM_011532647.2:c.*12_*14dup (DGUOK)	XP_011530949.1:n.*12_*14dup
XM_024452739.1:c.*12_*14dup (DGUOK)	XP_024308507.1:n.*12_*14dup
XR_001738656.1:n.782_784dup (DGUOK)
XR_244926.3:n.813_815dup (DGUOK)
NM_080916.3:c.*12_*14dup (DGUOK) MANE Select	NP_550438.1:n.*12_*14dup
NM_001318859.2:c.*12_*14dup (DGUOK)	NP_001305788.1:n.*12_*14dup
NM_001318860.2:c.*12_*14dup (DGUOK)	NP_001305789.1:n.*12_*14dup
NM_001318861.2:c.*12_*14dup (DGUOK)	NP_001305790.1:n.*12_*14dup
NM_001318862.2:c.*12_*14dup (DGUOK)	NP_001305791.1:n.*12_*14dup
NM_001318863.2:c.*12_*14dup (DGUOK)	NP_001305792.1:n.*12_*14dup
NM_080918.3:c.*12_*14dup (DGUOK)	NP_550440.1:n.*12_*14dup
NR_134893.2:n.500_502dup (DGUOK)
NR_134894.2:n.648_650dup (DGUOK)
NR_134895.2:n.312_314dup (DGUOK)
NR_134896.2:n.482_484dup (DGUOK)
NR_134897.2:n.692_694dup (DGUOK)
NR_134898.2:n.616_618dup (DGUOK)