Canonical Allele Identifier: CA2659644499

Gene: DGUOK DGUOK-AS1

Linked Data

• gnomAD v4: 2-73958220-C-CCAAACAAGAAGACCTCATGA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73958221_73958240dup , CM000664.2:g.73958221_73958240dup	GRCh38
NC_000002.11:g.74185348_74185367dup , CM000664.1:g.74185348_74185367dup	GRCh37
NC_000002.10:g.74038856_74038875dup	NCBI36
NG_008044.1:g.36396_36415dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264093.9:c.783_802dup (DGUOK) MANE Select	ENSP00000264093.4:p.Arg268ThrfsTer7
ENST00000264093.8:c.783_802dup (DGUOK)	ENSP00000264093.4:p.Arg268ThrfsTer7
ENST00000348222.3:c.519_538dup (DGUOK)	ENSP00000306964.3:p.Arg180ThrfsTer7
ENST00000418996.5:c.*136_*155dup (DGUOK)	ENSP00000408209.1:n.*136_*155dup
ENST00000462685.1:n.612_631dup (DGUOK)
ENST00000489796.5:n.668_687dup (DGUOK)
ENST00000629438.2:c.*400_*419dup (DGUOK)	ENSP00000487122.1:n.*400_*419dup
NM_080916.2:c.783_802dup (DGUOK)	NP_550438.1:p.Arg268ThrfsTer7
NM_080918.2:c.519_538dup (DGUOK)	NP_550440.1:p.Arg180ThrfsTer7
NR_104029.1:n.332-33_332-14dup (DGUOK-AS1)
NR_104030.1:n.306-33_306-14dup (DGUOK-AS1)
XM_005264173.2:c.492_511dup (DGUOK)	XP_005264230.1:p.Arg171ThrfsTer7
XM_005264174.1:c.492_511dup (DGUOK)	XP_005264231.1:p.Arg171ThrfsTer7
XM_011532647.1:c.765_784dup (DGUOK)	XP_011530949.1:p.Arg262ThrfsTer7
XM_011532648.1:c.474_493dup (DGUOK)	XP_011530950.1:p.Arg165ThrfsTer7
XR_244926.2:n.748_767dup (DGUOK)
NM_001318859.1:c.501_520dup (DGUOK)	NP_001305788.1:p.Arg174ThrfsTer7
NM_001318860.1:c.492_511dup (DGUOK)	NP_001305789.1:p.Arg171ThrfsTer7
NM_001318861.1:c.492_511dup (DGUOK)	NP_001305790.1:p.Arg171ThrfsTer7
NM_001318862.1:c.474_493dup (DGUOK)	NP_001305791.1:p.Arg165ThrfsTer7
NM_001318863.1:c.474_493dup (DGUOK)	NP_001305792.1:p.Arg165ThrfsTer7
NR_134893.1:n.491_510dup (DGUOK)
NR_134894.1:n.639_658dup (DGUOK)
NR_134895.1:n.303_322dup (DGUOK)
NR_134896.1:n.473_492dup (DGUOK)
NR_134897.1:n.683_702dup (DGUOK)
NR_134898.1:n.607_626dup (DGUOK)
XM_011532647.2:c.765_784dup (DGUOK)	XP_011530949.1:p.Arg262ThrfsTer7
XM_024452739.1:c.492_511dup (DGUOK)	XP_024308507.1:p.Arg171ThrfsTer7
XR_001738656.1:n.719_738dup (DGUOK)
XR_244926.3:n.750_769dup (DGUOK)
NM_080916.3:c.783_802dup (DGUOK) MANE Select	NP_550438.1:p.Arg268ThrfsTer7
NM_001318859.2:c.501_520dup (DGUOK)	NP_001305788.1:p.Arg174ThrfsTer7
NM_001318860.2:c.492_511dup (DGUOK)	NP_001305789.1:p.Arg171ThrfsTer7
NM_001318861.2:c.492_511dup (DGUOK)	NP_001305790.1:p.Arg171ThrfsTer7
NM_001318862.2:c.474_493dup (DGUOK)	NP_001305791.1:p.Arg165ThrfsTer7
NM_001318863.2:c.474_493dup (DGUOK)	NP_001305792.1:p.Arg165ThrfsTer7
NM_080918.3:c.519_538dup (DGUOK)	NP_550440.1:p.Arg180ThrfsTer7
NR_134893.2:n.437_456dup (DGUOK)
NR_134894.2:n.585_604dup (DGUOK)
NR_134895.2:n.249_268dup (DGUOK)
NR_134896.2:n.419_438dup (DGUOK)
NR_134897.2:n.629_648dup (DGUOK)
NR_134898.2:n.553_572dup (DGUOK)