Canonical Allele Identifier: CA1718384

Gene: DGUOK DGUOK-AS1

Linked Data

• dbSNP Id: rs750800572
• ExAC: 2:74185876 AGT / A
• gnomAD v2: 2-74185876-AGT-A
• gnomAD v4: 2-73958749-AGT-A
• MyVariant Identifiers: chr2:g.74185877_74185878del (hg19) ; chr2:g.73958750_73958751del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73958750_73958751del , CM000664.2:g.73958750_73958751del	GRCh38
NC_000002.11:g.74185877_74185878del , CM000664.1:g.74185877_74185878del	GRCh37
NC_000002.10:g.74039385_74039386del	NCBI36
NG_008044.1:g.36925_36926del

Transcript Alleles

HGVS	Amino-acid change
ENST00000264093.9:c.*14_*15del (DGUOK) MANE Select	ENSP00000264093.4:n.*14_*15del
ENST00000264093.8:c.*14_*15del (DGUOK)	ENSP00000264093.4:n.*14_*15del
ENST00000348222.3:c.*14_*15del (DGUOK)	ENSP00000306964.3:n.*14_*15del
ENST00000418996.5:c.*201_*202del (DGUOK)	ENSP00000408209.1:n.*201_*202del
ENST00000462685.1:n.677_678del (DGUOK)
ENST00000629438.2:c.*465_*466del (DGUOK)	ENSP00000487122.1:n.*465_*466del
NM_080916.2:c.*14_*15del (DGUOK)	NP_550438.1:n.*14_*15del
NM_080918.2:c.*14_*15del (DGUOK)	NP_550440.1:n.*14_*15del
NR_104029.1:n.332-544_332-543del (DGUOK-AS1)
NR_104030.1:n.306-544_306-543del (DGUOK-AS1)
XM_005264173.2:c.*14_*15del (DGUOK)	XP_005264230.1:n.*14_*15del
XM_005264174.1:c.*14_*15del (DGUOK)	XP_005264231.1:n.*14_*15del
XM_011532647.1:c.*14_*15del (DGUOK)	XP_011530949.1:n.*14_*15del
XM_011532648.1:c.*14_*15del (DGUOK)	XP_011530950.1:n.*14_*15del
XR_244926.2:n.813_814del (DGUOK)
NM_001318859.1:c.*14_*15del (DGUOK)	NP_001305788.1:n.*14_*15del
NM_001318860.1:c.*14_*15del (DGUOK)	NP_001305789.1:n.*14_*15del
NM_001318861.1:c.*14_*15del (DGUOK)	NP_001305790.1:n.*14_*15del
NM_001318862.1:c.*14_*15del (DGUOK)	NP_001305791.1:n.*14_*15del
NM_001318863.1:c.*14_*15del (DGUOK)	NP_001305792.1:n.*14_*15del
NR_134893.1:n.556_557del (DGUOK)
NR_134894.1:n.704_705del (DGUOK)
NR_134895.1:n.368_369del (DGUOK)
NR_134896.1:n.538_539del (DGUOK)
NR_134897.1:n.748_749del (DGUOK)
NR_134898.1:n.672_673del (DGUOK)
XM_011532647.2:c.*14_*15del (DGUOK)	XP_011530949.1:n.*14_*15del
XM_024452739.1:c.*14_*15del (DGUOK)	XP_024308507.1:n.*14_*15del
XR_001738656.1:n.784_785del (DGUOK)
XR_244926.3:n.815_816del (DGUOK)
NM_080916.3:c.*14_*15del (DGUOK) MANE Select	NP_550438.1:n.*14_*15del
NM_001318859.2:c.*14_*15del (DGUOK)	NP_001305788.1:n.*14_*15del
NM_001318860.2:c.*14_*15del (DGUOK)	NP_001305789.1:n.*14_*15del
NM_001318861.2:c.*14_*15del (DGUOK)	NP_001305790.1:n.*14_*15del
NM_001318862.2:c.*14_*15del (DGUOK)	NP_001305791.1:n.*14_*15del
NM_001318863.2:c.*14_*15del (DGUOK)	NP_001305792.1:n.*14_*15del
NM_080918.3:c.*14_*15del (DGUOK)	NP_550440.1:n.*14_*15del
NR_134893.2:n.502_503del (DGUOK)
NR_134894.2:n.650_651del (DGUOK)
NR_134895.2:n.314_315del (DGUOK)
NR_134896.2:n.484_485del (DGUOK)
NR_134897.2:n.694_695del (DGUOK)
NR_134898.2:n.618_619del (DGUOK)