Canonical Allele Identifier: CA892905586

Gene: DGUOK DGUOK-AS1

Linked Data

• dbSNP Id: rs1395191780
• gnomAD v3: 2-73958006-AATGCAGTTTAC-A
• gnomAD v4: 2-73958006-AATGCAGTTTAC-A
• MyVariant Identifiers: chr2:g.74185134_74185144del (hg19) ; chr2:g.73958007_73958017del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73958016_73958026del , CM000664.2:g.73958016_73958026del	GRCh38
NC_000002.11:g.74185143_74185153del , CM000664.1:g.74185143_74185153del	GRCh37
NC_000002.10:g.74038651_74038661del	NCBI36
NG_008044.1:g.36191_36201del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264093.9:c.708-130_708-120del (DGUOK) MANE Select	ENSP00000264093.4:n.708-130_708-120del
ENST00000264093.8:c.708-130_708-120del (DGUOK)	ENSP00000264093.4:n.708-130_708-120del
ENST00000348222.3:c.444-130_444-120del (DGUOK)	ENSP00000306964.3:n.444-130_444-120del
ENST00000418996.5:c.*61-130_*61-120del (DGUOK)	ENSP00000408209.1:n.*61-130_*61-120del
ENST00000462685.1:n.537-130_537-120del (DGUOK)
ENST00000489796.5:n.593-130_593-120del (DGUOK)
ENST00000629438.2:c.*325-130_*325-120del (DGUOK)	ENSP00000487122.1:n.*325-130_*325-120del
NM_080916.2:c.708-130_708-120del (DGUOK)	NP_550438.1:n.708-130_708-120del
NM_080918.2:c.444-130_444-120del (DGUOK)	NP_550440.1:n.444-130_444-120del
NR_104029.1:n.522_532del (DGUOK-AS1)
NR_104030.1:n.496_506del (DGUOK-AS1)
XM_005264173.2:c.417-130_417-120del (DGUOK)	XP_005264230.1:n.417-130_417-120del
XM_005264174.1:c.417-130_417-120del (DGUOK)	XP_005264231.1:n.417-130_417-120del
XM_011532647.1:c.690-130_690-120del (DGUOK)	XP_011530949.1:n.690-130_690-120del
XM_011532648.1:c.399-130_399-120del (DGUOK)	XP_011530950.1:n.399-130_399-120del
XR_244926.2:n.673-130_673-120del (DGUOK)
NM_001318859.1:c.426-130_426-120del (DGUOK)	NP_001305788.1:n.426-130_426-120del
NM_001318860.1:c.417-130_417-120del (DGUOK)	NP_001305789.1:n.417-130_417-120del
NM_001318861.1:c.417-130_417-120del (DGUOK)	NP_001305790.1:n.417-130_417-120del
NM_001318862.1:c.399-130_399-120del (DGUOK)	NP_001305791.1:n.399-130_399-120del
NM_001318863.1:c.399-130_399-120del (DGUOK)	NP_001305792.1:n.399-130_399-120del
NR_134893.1:n.416-130_416-120del (DGUOK)
NR_134894.1:n.564-130_564-120del (DGUOK)
NR_134895.1:n.228-130_228-120del (DGUOK)
NR_134896.1:n.398-130_398-120del (DGUOK)
NR_134897.1:n.608-130_608-120del (DGUOK)
NR_134898.1:n.532-130_532-120del (DGUOK)
XM_011532647.2:c.690-130_690-120del (DGUOK)	XP_011530949.1:n.690-130_690-120del
XM_024452739.1:c.417-130_417-120del (DGUOK)	XP_024308507.1:n.417-130_417-120del
XR_001738656.1:n.644-130_644-120del (DGUOK)
XR_244926.3:n.675-130_675-120del (DGUOK)
NM_080916.3:c.708-130_708-120del (DGUOK) MANE Select	NP_550438.1:n.708-130_708-120del
NM_001318859.2:c.426-130_426-120del (DGUOK)	NP_001305788.1:n.426-130_426-120del
NM_001318860.2:c.417-130_417-120del (DGUOK)	NP_001305789.1:n.417-130_417-120del
NM_001318861.2:c.417-130_417-120del (DGUOK)	NP_001305790.1:n.417-130_417-120del
NM_001318862.2:c.399-130_399-120del (DGUOK)	NP_001305791.1:n.399-130_399-120del
NM_001318863.2:c.399-130_399-120del (DGUOK)	NP_001305792.1:n.399-130_399-120del
NM_080918.3:c.444-130_444-120del (DGUOK)	NP_550440.1:n.444-130_444-120del
NR_134893.2:n.362-130_362-120del (DGUOK)
NR_134894.2:n.510-130_510-120del (DGUOK)
NR_134895.2:n.174-130_174-120del (DGUOK)
NR_134896.2:n.344-130_344-120del (DGUOK)
NR_134897.2:n.554-130_554-120del (DGUOK)
NR_134898.2:n.478-130_478-120del (DGUOK)