Canonical Allele Identifier: CA533695850

Gene: DGUOK DGUOK-AS1

Linked Data

• dbSNP Id: rs1381705311
• gnomAD v2: 2-74185283-G-GAGGCTC
• MyVariant Identifiers: chr2:g.74185283_74185284insAGGCTC (hg19) ; chr2:g.73958156_73958157insAGGCTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73958157_73958162dup , CM000664.2:g.73958157_73958162dup	GRCh38
NC_000002.11:g.74185284_74185289dup , CM000664.1:g.74185284_74185289dup	GRCh37
NC_000002.10:g.74038792_74038797dup	NCBI36
NG_008044.1:g.36332_36337dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264093.9:c.719_724dup (DGUOK) MANE Select	ENSP00000264093.4:p.Ala241_Leu242insGlnAla
ENST00000264093.8:c.719_724dup (DGUOK)	ENSP00000264093.4:p.Ala241_Leu242insGlnAla
ENST00000348222.3:c.455_460dup (DGUOK)	ENSP00000306964.3:p.Ala153_Leu154insGlnAla
ENST00000418996.5:c.*72_*77dup (DGUOK)	ENSP00000408209.1:n.*72_*77dup
ENST00000462685.1:n.548_553dup (DGUOK)
ENST00000489796.5:n.604_609dup (DGUOK)
ENST00000629438.2:c.*336_*341dup (DGUOK)	ENSP00000487122.1:n.*336_*341dup
NM_080916.2:c.719_724dup (DGUOK)	NP_550438.1:p.Ala241_Leu242insGlnAla
NM_080918.2:c.455_460dup (DGUOK)	NP_550440.1:p.Ala153_Leu154insGlnAla
NR_104029.1:n.377_382dup (DGUOK-AS1)
NR_104030.1:n.351_356dup (DGUOK-AS1)
XM_005264173.2:c.428_433dup (DGUOK)	XP_005264230.1:p.Ala144_Leu145insGlnAla
XM_005264174.1:c.428_433dup (DGUOK)	XP_005264231.1:p.Ala144_Leu145insGlnAla
XM_011532647.1:c.701_706dup (DGUOK)	XP_011530949.1:p.Ala235_Leu236insGlnAla
XM_011532648.1:c.410_415dup (DGUOK)	XP_011530950.1:p.Ala138_Leu139insGlnAla
XR_244926.2:n.684_689dup (DGUOK)
NM_001318859.1:c.437_442dup (DGUOK)	NP_001305788.1:p.Ala147_Leu148insGlnAla
NM_001318860.1:c.428_433dup (DGUOK)	NP_001305789.1:p.Ala144_Leu145insGlnAla
NM_001318861.1:c.428_433dup (DGUOK)	NP_001305790.1:p.Ala144_Leu145insGlnAla
NM_001318862.1:c.410_415dup (DGUOK)	NP_001305791.1:p.Ala138_Leu139insGlnAla
NM_001318863.1:c.410_415dup (DGUOK)	NP_001305792.1:p.Ala138_Leu139insGlnAla
NR_134893.1:n.427_432dup (DGUOK)
NR_134894.1:n.575_580dup (DGUOK)
NR_134895.1:n.239_244dup (DGUOK)
NR_134896.1:n.409_414dup (DGUOK)
NR_134897.1:n.619_624dup (DGUOK)
NR_134898.1:n.543_548dup (DGUOK)
XM_011532647.2:c.701_706dup (DGUOK)	XP_011530949.1:p.Ala235_Leu236insGlnAla
XM_024452739.1:c.428_433dup (DGUOK)	XP_024308507.1:p.Ala144_Leu145insGlnAla
XR_001738656.1:n.655_660dup (DGUOK)
XR_244926.3:n.686_691dup (DGUOK)
NM_080916.3:c.719_724dup (DGUOK) MANE Select	NP_550438.1:p.Ala241_Leu242insGlnAla
NM_001318859.2:c.437_442dup (DGUOK)	NP_001305788.1:p.Ala147_Leu148insGlnAla
NM_001318860.2:c.428_433dup (DGUOK)	NP_001305789.1:p.Ala144_Leu145insGlnAla
NM_001318861.2:c.428_433dup (DGUOK)	NP_001305790.1:p.Ala144_Leu145insGlnAla
NM_001318862.2:c.410_415dup (DGUOK)	NP_001305791.1:p.Ala138_Leu139insGlnAla
NM_001318863.2:c.410_415dup (DGUOK)	NP_001305792.1:p.Ala138_Leu139insGlnAla
NM_080918.3:c.455_460dup (DGUOK)	NP_550440.1:p.Ala153_Leu154insGlnAla
NR_134893.2:n.373_378dup (DGUOK)
NR_134894.2:n.521_526dup (DGUOK)
NR_134895.2:n.185_190dup (DGUOK)
NR_134896.2:n.355_360dup (DGUOK)
NR_134897.2:n.565_570dup (DGUOK)
NR_134898.2:n.489_494dup (DGUOK)