Canonical Allele Identifier: CA2289327
Gene: NGLY1 HGNC NCBI

Linked Data

ClinVar Variation Id: 424175
dbSNP Id: rs761634625

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.25737357_25737359del , CM000665.2:g.25737357_25737359del GRCh38
NC_000003.11:g.25778848_25778850del , CM000665.1:g.25778848_25778850del GRCh37
NC_000003.10:g.25753852_25753854del NCBI36
NG_034108.1:g.57681_57683del

Transcript Alleles

HGVS Amino-acid Change
ENST00000280700.10:c.978_980del MANE Select ENSP00000280700.5:p.Glu326_Ala327delinsAsp
ENST00000463611.2:c.*1069_*1071del ENSP00000501918.1:n.*1069_*1071del
ENST00000674841.1:n.1101_1103del
ENST00000675178.1:n.168-3377_168-3375del
ENST00000675217.1:c.*351_*353del ENSP00000502195.1:n.*351_*353del
ENST00000675234.1:c.*475_*477del ENSP00000502740.1:n.*475_*477del
ENST00000675680.1:c.391-959_391-957del
ENST00000676225.1:c.882-959_882-957del ENSP00000501622.1:n.882-959_882-957del
ENST00000280699.13:c.729_731del
ENST00000280700.9:c.978_980del ENSP00000280700.5:p.Glu326_Ala327delinsAsp
ENST00000308710.9:c.969_971del ENSP00000307980.5:p.Glu323_Ala324delinsAsp
ENST00000396649.7:c.978_980del ENSP00000379886.3:p.Glu326_Ala327delinsAsp
ENST00000417874.6:c.852_854del ENSP00000389888.2:p.Glu284_Ala285delinsAsp
ENST00000428257.5:c.978_980del ENSP00000387430.1:p.Glu326_Ala327delinsAsp
ENST00000493324.5:n.1002_1004del
NM_001145293.1:c.978_980del NP_001138765.1:p.Glu326_Ala327delinsAsp
NM_001145294.1:c.852_854del NP_001138766.1:p.Glu284_Ala285delinsAsp
NM_001145295.1:c.978_980del NP_001138767.1:p.Glu326_Ala327delinsAsp
NM_018297.3:c.978_980del NP_060767.2:p.Glu326_Ala327delinsAsp
XM_005265316.1:c.978_980del XP_005265373.1:p.Glu326_Ala327delinsAsp
XM_005265317.1:c.978_980del XP_005265374.1:p.Glu326_Ala327delinsAsp
XM_011533944.1:c.747_749del XP_011532246.1:p.Glu249_Ala250delinsAsp
XM_011533945.1:c.978_980del XP_011532247.1:p.Glu326_Ala327delinsAsp
XR_940470.1:n.1031_1033del
XR_940471.1:n.1031_1033del
XM_017006839.2:c.978_980del XP_016862328.1:p.Glu326_Ala327delinsAsp
XR_001740200.2:n.1031_1033del
XR_002959548.1:n.1031_1033del
XR_940471.2:n.1031_1033del
NM_018297.4:c.978_980del MANE Select NP_060767.2:p.Glu326_Ala327delinsAsp
NM_001145293.2:c.978_980del NP_001138765.1:p.Glu326_Ala327delinsAsp
NM_001145294.2:c.852_854del NP_001138766.1:p.Glu284_Ala285delinsAsp
NM_001145295.2:c.978_980del NP_001138767.1:p.Glu326_Ala327delinsAsp