Canonical Allele Identifier: CA1718349

Gene: DGUOK DGUOK-AS1

Linked Data

• dbSNP Id: rs771606997
• ExAC: 2:74185307 C / CTGGT
• gnomAD v2: 2-74185307-C-CTGGT
• gnomAD v4: 2-73958180-C-CTGGT
• MyVariant Identifiers: chr2:g.74185307_74185308insTGGT (hg19) ; chr2:g.73958180_73958181insTGGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73958181_73958184dup , CM000664.2:g.73958181_73958184dup	GRCh38
NC_000002.11:g.74185308_74185311dup , CM000664.1:g.74185308_74185311dup	GRCh37
NC_000002.10:g.74038816_74038819dup	NCBI36
NG_008044.1:g.36356_36359dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264093.9:c.743_746dup (DGUOK) MANE Select	ENSP00000264093.4:p.Leu250GlyfsTer6
ENST00000264093.8:c.743_746dup (DGUOK)	ENSP00000264093.4:p.Leu250GlyfsTer6
ENST00000348222.3:c.479_482dup (DGUOK)	ENSP00000306964.3:p.Leu162GlyfsTer6
ENST00000418996.5:c.*96_*99dup (DGUOK)	ENSP00000408209.1:n.*96_*99dup
ENST00000462685.1:n.572_575dup (DGUOK)
ENST00000489796.5:n.628_631dup (DGUOK)
ENST00000629438.2:c.*360_*363dup (DGUOK)	ENSP00000487122.1:n.*360_*363dup
NM_080916.2:c.743_746dup (DGUOK)	NP_550438.1:p.Leu250GlyfsTer6
NM_080918.2:c.479_482dup (DGUOK)	NP_550440.1:p.Leu162GlyfsTer6
NR_104029.1:n.355_358dup (DGUOK-AS1)
NR_104030.1:n.329_332dup (DGUOK-AS1)
XM_005264173.2:c.452_455dup (DGUOK)	XP_005264230.1:p.Leu153GlyfsTer6
XM_005264174.1:c.452_455dup (DGUOK)	XP_005264231.1:p.Leu153GlyfsTer6
XM_011532647.1:c.725_728dup (DGUOK)	XP_011530949.1:p.Leu244GlyfsTer6
XM_011532648.1:c.434_437dup (DGUOK)	XP_011530950.1:p.Leu147GlyfsTer6
XR_244926.2:n.708_711dup (DGUOK)
NM_001318859.1:c.461_464dup (DGUOK)	NP_001305788.1:p.Leu156GlyfsTer6
NM_001318860.1:c.452_455dup (DGUOK)	NP_001305789.1:p.Leu153GlyfsTer6
NM_001318861.1:c.452_455dup (DGUOK)	NP_001305790.1:p.Leu153GlyfsTer6
NM_001318862.1:c.434_437dup (DGUOK)	NP_001305791.1:p.Leu147GlyfsTer6
NM_001318863.1:c.434_437dup (DGUOK)	NP_001305792.1:p.Leu147GlyfsTer6
NR_134893.1:n.451_454dup (DGUOK)
NR_134894.1:n.599_602dup (DGUOK)
NR_134895.1:n.263_266dup (DGUOK)
NR_134896.1:n.433_436dup (DGUOK)
NR_134897.1:n.643_646dup (DGUOK)
NR_134898.1:n.567_570dup (DGUOK)
XM_011532647.2:c.725_728dup (DGUOK)	XP_011530949.1:p.Leu244GlyfsTer6
XM_024452739.1:c.452_455dup (DGUOK)	XP_024308507.1:p.Leu153GlyfsTer6
XR_001738656.1:n.679_682dup (DGUOK)
XR_244926.3:n.710_713dup (DGUOK)
NM_080916.3:c.743_746dup (DGUOK) MANE Select	NP_550438.1:p.Leu250GlyfsTer6
NM_001318859.2:c.461_464dup (DGUOK)	NP_001305788.1:p.Leu156GlyfsTer6
NM_001318860.2:c.452_455dup (DGUOK)	NP_001305789.1:p.Leu153GlyfsTer6
NM_001318861.2:c.452_455dup (DGUOK)	NP_001305790.1:p.Leu153GlyfsTer6
NM_001318862.2:c.434_437dup (DGUOK)	NP_001305791.1:p.Leu147GlyfsTer6
NM_001318863.2:c.434_437dup (DGUOK)	NP_001305792.1:p.Leu147GlyfsTer6
NM_080918.3:c.479_482dup (DGUOK)	NP_550440.1:p.Leu162GlyfsTer6
NR_134893.2:n.397_400dup (DGUOK)
NR_134894.2:n.545_548dup (DGUOK)
NR_134895.2:n.209_212dup (DGUOK)
NR_134896.2:n.379_382dup (DGUOK)
NR_134897.2:n.589_592dup (DGUOK)
NR_134898.2:n.513_516dup (DGUOK)