Canonical Allele Identifier: CA533695853

Gene: DGUOK DGUOK-AS1

Linked Data

• ClinVar Variation Id: 1526089
• ClinVar RCV Id: RCV002052109
• dbSNP Id: rs1396335431
• gnomAD v2: 2-74185352-CAAG-C
• gnomAD v4: 2-73958225-CAAG-C
• MyVariant Identifiers: chr2:g.74185353_74185355del (hg19) ; chr2:g.73958226_73958228del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73958230_73958232del , CM000664.2:g.73958230_73958232del	GRCh38
NC_000002.11:g.74185357_74185359del , CM000664.1:g.74185357_74185359del	GRCh37
NC_000002.10:g.74038865_74038867del	NCBI36
NG_008044.1:g.36405_36407del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264093.9:c.792_794del (DGUOK) MANE Select	ENSP00000264093.4:p.Glu264del
ENST00000264093.8:c.792_794del (DGUOK)	ENSP00000264093.4:p.Glu264del
ENST00000348222.3:c.528_530del (DGUOK)	ENSP00000306964.3:p.Glu176del
ENST00000418996.5:c.*145_*147del (DGUOK)	ENSP00000408209.1:n.*145_*147del
ENST00000462685.1:n.621_623del (DGUOK)
ENST00000489796.5:n.677_679del (DGUOK)
ENST00000629438.2:c.*409_*411del (DGUOK)	ENSP00000487122.1:n.*409_*411del
NM_080916.2:c.792_794del (DGUOK)	NP_550438.1:p.Glu264del
NM_080918.2:c.528_530del (DGUOK)	NP_550440.1:p.Glu176del
NR_104029.1:n.332-21_332-19del (DGUOK-AS1)
NR_104030.1:n.306-21_306-19del (DGUOK-AS1)
XM_005264173.2:c.501_503del (DGUOK)	XP_005264230.1:p.Glu167del
XM_005264174.1:c.501_503del (DGUOK)	XP_005264231.1:p.Glu167del
XM_011532647.1:c.774_776del (DGUOK)	XP_011530949.1:p.Glu258del
XM_011532648.1:c.483_485del (DGUOK)	XP_011530950.1:p.Glu161del
XR_244926.2:n.757_759del (DGUOK)
NM_001318859.1:c.510_512del (DGUOK)	NP_001305788.1:p.Glu170del
NM_001318860.1:c.501_503del (DGUOK)	NP_001305789.1:p.Glu167del
NM_001318861.1:c.501_503del (DGUOK)	NP_001305790.1:p.Glu167del
NM_001318862.1:c.483_485del (DGUOK)	NP_001305791.1:p.Glu161del
NM_001318863.1:c.483_485del (DGUOK)	NP_001305792.1:p.Glu161del
NR_134893.1:n.500_502del (DGUOK)
NR_134894.1:n.648_650del (DGUOK)
NR_134895.1:n.312_314del (DGUOK)
NR_134896.1:n.482_484del (DGUOK)
NR_134897.1:n.692_694del (DGUOK)
NR_134898.1:n.616_618del (DGUOK)
XM_011532647.2:c.774_776del (DGUOK)	XP_011530949.1:p.Glu258del
XM_024452739.1:c.501_503del (DGUOK)	XP_024308507.1:p.Glu167del
XR_001738656.1:n.728_730del (DGUOK)
XR_244926.3:n.759_761del (DGUOK)
NM_080916.3:c.792_794del (DGUOK) MANE Select	NP_550438.1:p.Glu264del
NM_001318859.2:c.510_512del (DGUOK)	NP_001305788.1:p.Glu170del
NM_001318860.2:c.501_503del (DGUOK)	NP_001305789.1:p.Glu167del
NM_001318861.2:c.501_503del (DGUOK)	NP_001305790.1:p.Glu167del
NM_001318862.2:c.483_485del (DGUOK)	NP_001305791.1:p.Glu161del
NM_001318863.2:c.483_485del (DGUOK)	NP_001305792.1:p.Glu161del
NM_080918.3:c.528_530del (DGUOK)	NP_550440.1:p.Glu176del
NR_134893.2:n.446_448del (DGUOK)
NR_134894.2:n.594_596del (DGUOK)
NR_134895.2:n.258_260del (DGUOK)
NR_134896.2:n.428_430del (DGUOK)
NR_134897.2:n.638_640del (DGUOK)
NR_134898.2:n.562_564del (DGUOK)