Canonical Allele Identifier: CA320991
Community Standard Title: NM_080916.3(DGUOK):c.605_606del (p.Arg202ThrfsTer13)
Gene: DGUOK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73957138_73957139del , CM000664.2:g.73957138_73957139del GRCh38
NC_000002.11:g.74184265_74184266del , CM000664.1:g.74184265_74184266del GRCh37
NC_000002.10:g.74037773_74037774del NCBI36
NG_008044.1:g.35313_35314del

Transcript Alleles

HGVS Amino-acid Change
NM_080916.3:c.605_606del MANE Select NP_550438.1:p.Arg202ThrfsTer13
ENST00000264093.9:c.605_606del MANE Select ENSP00000264093.4:p.Arg202ThrfsTer13
NM_001318859.1:c.426-1008_426-1007del NP_001305788.1:n.426-1008_426-1007del
NM_001318859.2:c.426-1008_426-1007del NP_001305788.1:n.426-1008_426-1007del
NM_001318860.1:c.314_315del NP_001305789.1:p.Arg105ThrfsTer13
NM_001318860.2:c.314_315del NP_001305789.1:p.Arg105ThrfsTer13
NM_001318861.1:c.314_315del NP_001305790.1:p.Arg105ThrfsTer13
NM_001318861.2:c.314_315del NP_001305790.1:p.Arg105ThrfsTer13
NM_001318862.1:c.296_297del NP_001305791.1:p.Arg99ThrfsTer13
NM_001318862.2:c.296_297del NP_001305791.1:p.Arg99ThrfsTer13
NM_001318863.1:c.296_297del NP_001305792.1:p.Arg99ThrfsTer13
NM_001318863.2:c.296_297del NP_001305792.1:p.Arg99ThrfsTer13
NM_080916.2:c.605_606del NP_550438.1:p.Arg202ThrfsTer13
NM_080918.2:c.444-1008_444-1007del NP_550440.1:n.444-1008_444-1007del
NM_080918.3:c.444-1008_444-1007del NP_550440.1:n.444-1008_444-1007del
NR_134893.1:n.416-1008_416-1007del
NR_134893.2:n.362-1008_362-1007del
NR_134894.1:n.564-1008_564-1007del
NR_134894.2:n.510-1008_510-1007del
NR_134895.1:n.228-1008_228-1007del
NR_134895.2:n.174-1008_174-1007del
NR_134896.1:n.398-1008_398-1007del
NR_134896.2:n.344-1008_344-1007del
NR_134897.1:n.608-1008_608-1007del
NR_134897.2:n.554-1008_554-1007del
NR_134898.1:n.429_430del
NR_134898.2:n.375_376del
ENST00000264093.8:c.605_606del ENSP00000264093.4:p.Arg202ThrfsTer13
ENST00000348222.3:c.444-1008_444-1007del ENSP00000306964.3:n.444-1008_444-1007del
ENST00000418996.5:c.*61-1008_*61-1007del ENSP00000408209.1:n.*61-1008_*61-1007del
ENST00000462685.1:n.537-1008_537-1007del
ENST00000489796.5:n.593-1008_593-1007del
ENST00000629438.2:c.*222_*223del ENSP00000487122.1:n.*222_*223del
XM_005264173.2:c.314_315del XP_005264230.1:p.Arg105ThrfsTer13
XM_005264174.1:c.314_315del XP_005264231.1:p.Arg105ThrfsTer13
XM_011532647.1:c.587_588del XP_011530949.1:p.Arg196ThrfsTer13
XM_011532647.2:c.587_588del XP_011530949.1:p.Arg196ThrfsTer13
XM_011532648.1:c.296_297del XP_011530950.1:p.Arg99ThrfsTer13
XM_024452739.1:c.314_315del XP_024308507.1:p.Arg105ThrfsTer13
XR_001738656.1:n.541_542del
XR_244926.2:n.673-1008_673-1007del
XR_244926.3:n.675-1008_675-1007del