Canonical Allele Identifier: CA892906218

Gene: DGUOK DGUOK-AS1

Linked Data

• dbSNP Id: rs1459767177
• gnomAD v3: 2-73958320-AGTTCAATATCAT-A
• gnomAD v4: 2-73958320-AGTTCAATATCAT-A
• MyVariant Identifiers: chr2:g.74185448_74185459del (hg19) ; chr2:g.73958321_73958332del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73958322_73958333del , CM000664.2:g.73958322_73958333del	GRCh38
NC_000002.11:g.74185449_74185460del , CM000664.1:g.74185449_74185460del	GRCh37
NC_000002.10:g.74038957_74038968del	NCBI36
NG_008044.1:g.36497_36508del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264093.9:c.807+77_807+88del (DGUOK) MANE Select	ENSP00000264093.4:n.807+77_807+88del
ENST00000264093.8:c.807+77_807+88del (DGUOK)	ENSP00000264093.4:n.807+77_807+88del
ENST00000348222.3:c.543+77_543+88del (DGUOK)	ENSP00000306964.3:n.543+77_543+88del
ENST00000418996.5:c.*160+77_*160+88del (DGUOK)	ENSP00000408209.1:n.*160+77_*160+88del
ENST00000462685.1:n.636+77_636+88del (DGUOK)
ENST00000629438.2:c.*424+77_*424+88del (DGUOK)	ENSP00000487122.1:n.*424+77_*424+88del
NM_080916.2:c.807+77_807+88del (DGUOK)	NP_550438.1:n.807+77_807+88del
NM_080918.2:c.543+77_543+88del (DGUOK)	NP_550440.1:n.543+77_543+88del
NR_104029.1:n.332-125_332-114del (DGUOK-AS1)
NR_104030.1:n.306-125_306-114del (DGUOK-AS1)
XM_005264173.2:c.516+77_516+88del (DGUOK)	XP_005264230.1:n.516+77_516+88del
XM_005264174.1:c.516+77_516+88del (DGUOK)	XP_005264231.1:n.516+77_516+88del
XM_011532647.1:c.789+77_789+88del (DGUOK)	XP_011530949.1:n.789+77_789+88del
XM_011532648.1:c.498+77_498+88del (DGUOK)	XP_011530950.1:n.498+77_498+88del
XR_244926.2:n.772+77_772+88del (DGUOK)
NM_001318859.1:c.525+77_525+88del (DGUOK)	NP_001305788.1:n.525+77_525+88del
NM_001318860.1:c.516+77_516+88del (DGUOK)	NP_001305789.1:n.516+77_516+88del
NM_001318861.1:c.516+77_516+88del (DGUOK)	NP_001305790.1:n.516+77_516+88del
NM_001318862.1:c.498+77_498+88del (DGUOK)	NP_001305791.1:n.498+77_498+88del
NM_001318863.1:c.498+77_498+88del (DGUOK)	NP_001305792.1:n.498+77_498+88del
NR_134893.1:n.515+77_515+88del (DGUOK)
NR_134894.1:n.663+77_663+88del (DGUOK)
NR_134895.1:n.327+77_327+88del (DGUOK)
NR_134896.1:n.497+77_497+88del (DGUOK)
NR_134897.1:n.707+77_707+88del (DGUOK)
NR_134898.1:n.631+77_631+88del (DGUOK)
XM_011532647.2:c.789+77_789+88del (DGUOK)	XP_011530949.1:n.789+77_789+88del
XM_024452739.1:c.516+77_516+88del (DGUOK)	XP_024308507.1:n.516+77_516+88del
XR_001738656.1:n.743+77_743+88del (DGUOK)
XR_244926.3:n.774+77_774+88del (DGUOK)
NM_080916.3:c.807+77_807+88del (DGUOK) MANE Select	NP_550438.1:n.807+77_807+88del
NM_001318859.2:c.525+77_525+88del (DGUOK)	NP_001305788.1:n.525+77_525+88del
NM_001318860.2:c.516+77_516+88del (DGUOK)	NP_001305789.1:n.516+77_516+88del
NM_001318861.2:c.516+77_516+88del (DGUOK)	NP_001305790.1:n.516+77_516+88del
NM_001318862.2:c.498+77_498+88del (DGUOK)	NP_001305791.1:n.498+77_498+88del
NM_001318863.2:c.498+77_498+88del (DGUOK)	NP_001305792.1:n.498+77_498+88del
NM_080918.3:c.543+77_543+88del (DGUOK)	NP_550440.1:n.543+77_543+88del
NR_134893.2:n.461+77_461+88del (DGUOK)
NR_134894.2:n.609+77_609+88del (DGUOK)
NR_134895.2:n.273+77_273+88del (DGUOK)
NR_134896.2:n.443+77_443+88del (DGUOK)
NR_134897.2:n.653+77_653+88del (DGUOK)
NR_134898.2:n.577+77_577+88del (DGUOK)