Canonical Allele Identifier: CA50410675

Gene: DGUOK

Linked Data

• dbSNP Id: rs1040768100
• gnomAD v3: 2-73957838-GTA-G
• gnomAD v4: 2-73957838-GTA-G
• MyVariant Identifiers: chr2:g.74184966_74184967del (hg19) ; chr2:g.73957839_73957840del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73957840_73957841del , CM000664.2:g.73957840_73957841del	GRCh38
NC_000002.11:g.74184967_74184968del , CM000664.1:g.74184967_74184968del	GRCh37
NC_000002.10:g.74038475_74038476del	NCBI36
NG_008044.1:g.36015_36016del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264093.9:c.708-306_708-305del MANE Select	ENSP00000264093.4:n.708-306_708-305del
ENST00000264093.8:c.708-306_708-305del	ENSP00000264093.4:n.708-306_708-305del
ENST00000348222.3:c.444-306_444-305del	ENSP00000306964.3:n.444-306_444-305del
ENST00000418996.5:c.*61-306_*61-305del	ENSP00000408209.1:n.*61-306_*61-305del
ENST00000462685.1:n.537-306_537-305del
ENST00000489796.5:n.593-306_593-305del
ENST00000629438.2:c.*325-306_*325-305del	ENSP00000487122.1:n.*325-306_*325-305del
NM_080916.2:c.708-306_708-305del	NP_550438.1:n.708-306_708-305del
NM_080918.2:c.444-306_444-305del	NP_550440.1:n.444-306_444-305del
XM_005264173.2:c.417-306_417-305del	XP_005264230.1:n.417-306_417-305del
XM_005264174.1:c.417-306_417-305del	XP_005264231.1:n.417-306_417-305del
XM_011532647.1:c.690-306_690-305del	XP_011530949.1:n.690-306_690-305del
XM_011532648.1:c.399-306_399-305del	XP_011530950.1:n.399-306_399-305del
XR_244926.2:n.673-306_673-305del
NM_001318859.1:c.426-306_426-305del	NP_001305788.1:n.426-306_426-305del
NM_001318860.1:c.417-306_417-305del	NP_001305789.1:n.417-306_417-305del
NM_001318861.1:c.417-306_417-305del	NP_001305790.1:n.417-306_417-305del
NM_001318862.1:c.399-306_399-305del	NP_001305791.1:n.399-306_399-305del
NM_001318863.1:c.399-306_399-305del	NP_001305792.1:n.399-306_399-305del
NR_134893.1:n.416-306_416-305del
NR_134894.1:n.564-306_564-305del
NR_134895.1:n.228-306_228-305del
NR_134896.1:n.398-306_398-305del
NR_134897.1:n.608-306_608-305del
NR_134898.1:n.532-306_532-305del
XM_011532647.2:c.690-306_690-305del	XP_011530949.1:n.690-306_690-305del
XM_024452739.1:c.417-306_417-305del	XP_024308507.1:n.417-306_417-305del
XR_001738656.1:n.644-306_644-305del
XR_244926.3:n.675-306_675-305del
NM_080916.3:c.708-306_708-305del MANE Select	NP_550438.1:n.708-306_708-305del
NM_001318859.2:c.426-306_426-305del	NP_001305788.1:n.426-306_426-305del
NM_001318860.2:c.417-306_417-305del	NP_001305789.1:n.417-306_417-305del
NM_001318861.2:c.417-306_417-305del	NP_001305790.1:n.417-306_417-305del
NM_001318862.2:c.399-306_399-305del	NP_001305791.1:n.399-306_399-305del
NM_001318863.2:c.399-306_399-305del	NP_001305792.1:n.399-306_399-305del
NM_080918.3:c.444-306_444-305del	NP_550440.1:n.444-306_444-305del
NR_134893.2:n.362-306_362-305del
NR_134894.2:n.510-306_510-305del
NR_134895.2:n.174-306_174-305del
NR_134896.2:n.344-306_344-305del
NR_134897.2:n.554-306_554-305del
NR_134898.2:n.478-306_478-305del