Canonical Allele Identifier: CA2659644501

Gene: DGUOK DGUOK-AS1

Linked Data

• gnomAD v4: 2-73958225-CAAGAAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73958227_73958232del , CM000664.2:g.73958227_73958232del	GRCh38
NC_000002.11:g.74185354_74185359del , CM000664.1:g.74185354_74185359del	GRCh37
NC_000002.10:g.74038862_74038867del	NCBI36
NG_008044.1:g.36402_36407del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264093.9:c.789_794del (DGUOK) MANE Select	ENSP00000264093.4:p.Gln263_Asp265delinsHis
ENST00000264093.8:c.789_794del (DGUOK)	ENSP00000264093.4:p.Gln263_Asp265delinsHis
ENST00000348222.3:c.525_530del (DGUOK)	ENSP00000306964.3:p.Gln175_Asp177delinsHis
ENST00000418996.5:c.*142_*147del (DGUOK)	ENSP00000408209.1:n.*142_*147del
ENST00000462685.1:n.618_623del (DGUOK)
ENST00000489796.5:n.674_679del (DGUOK)
ENST00000629438.2:c.*406_*411del (DGUOK)	ENSP00000487122.1:n.*406_*411del
NM_080916.2:c.789_794del (DGUOK)	NP_550438.1:p.Gln263_Asp265delinsHis
NM_080918.2:c.525_530del (DGUOK)	NP_550440.1:p.Gln175_Asp177delinsHis
NR_104029.1:n.332-24_332-19del (DGUOK-AS1)
NR_104030.1:n.306-24_306-19del (DGUOK-AS1)
XM_005264173.2:c.498_503del (DGUOK)	XP_005264230.1:p.Gln166_Asp168delinsHis
XM_005264174.1:c.498_503del (DGUOK)	XP_005264231.1:p.Gln166_Asp168delinsHis
XM_011532647.1:c.771_776del (DGUOK)	XP_011530949.1:p.Gln257_Asp259delinsHis
XM_011532648.1:c.480_485del (DGUOK)	XP_011530950.1:p.Gln160_Asp162delinsHis
XR_244926.2:n.754_759del (DGUOK)
NM_001318859.1:c.507_512del (DGUOK)	NP_001305788.1:p.Gln169_Asp171delinsHis
NM_001318860.1:c.498_503del (DGUOK)	NP_001305789.1:p.Gln166_Asp168delinsHis
NM_001318861.1:c.498_503del (DGUOK)	NP_001305790.1:p.Gln166_Asp168delinsHis
NM_001318862.1:c.480_485del (DGUOK)	NP_001305791.1:p.Gln160_Asp162delinsHis
NM_001318863.1:c.480_485del (DGUOK)	NP_001305792.1:p.Gln160_Asp162delinsHis
NR_134893.1:n.497_502del (DGUOK)
NR_134894.1:n.645_650del (DGUOK)
NR_134895.1:n.309_314del (DGUOK)
NR_134896.1:n.479_484del (DGUOK)
NR_134897.1:n.689_694del (DGUOK)
NR_134898.1:n.613_618del (DGUOK)
XM_011532647.2:c.771_776del (DGUOK)	XP_011530949.1:p.Gln257_Asp259delinsHis
XM_024452739.1:c.498_503del (DGUOK)	XP_024308507.1:p.Gln166_Asp168delinsHis
XR_001738656.1:n.725_730del (DGUOK)
XR_244926.3:n.756_761del (DGUOK)
NM_080916.3:c.789_794del (DGUOK) MANE Select	NP_550438.1:p.Gln263_Asp265delinsHis
NM_001318859.2:c.507_512del (DGUOK)	NP_001305788.1:p.Gln169_Asp171delinsHis
NM_001318860.2:c.498_503del (DGUOK)	NP_001305789.1:p.Gln166_Asp168delinsHis
NM_001318861.2:c.498_503del (DGUOK)	NP_001305790.1:p.Gln166_Asp168delinsHis
NM_001318862.2:c.480_485del (DGUOK)	NP_001305791.1:p.Gln160_Asp162delinsHis
NM_001318863.2:c.480_485del (DGUOK)	NP_001305792.1:p.Gln160_Asp162delinsHis
NM_080918.3:c.525_530del (DGUOK)	NP_550440.1:p.Gln175_Asp177delinsHis
NR_134893.2:n.443_448del (DGUOK)
NR_134894.2:n.591_596del (DGUOK)
NR_134895.2:n.255_260del (DGUOK)
NR_134896.2:n.425_430del (DGUOK)
NR_134897.2:n.635_640del (DGUOK)
NR_134898.2:n.559_564del (DGUOK)