Canonical Allele Identifier: CA645524194

Gene: NGLY1

Linked Data

• COSMIC: COSM5801219 ; COSM5801220

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.25737453_25737467del , CM000665.2:g.25737453_25737467del	GRCh38
NC_000003.11:g.25778944_25778958del , CM000665.1:g.25778944_25778958del	GRCh37
NC_000003.10:g.25753948_25753962del	NCBI36
NG_034108.1:g.57574_57588del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280700.10:c.882-11_885del
ENST00000463611.2:c.*973-11_*976del
ENST00000674841.1:n.1005-11_1008del
ENST00000675178.1:n.168-3484_168-3470del
ENST00000675217.1:c.*255-11_*258del
ENST00000675234.1:c.*379-11_*382del
ENST00000675680.1:c.391-1066_391-1052del
ENST00000676225.1:c.882-1066_882-1052del	ENSP00000501622.1:n.882-1066_882-1052del
ENST00000280699.13:c.633-11_636del
ENST00000280700.9:c.882-11_885del
ENST00000308710.9:c.873-11_876del
ENST00000396649.7:c.882-11_885del
ENST00000417874.6:c.756-11_759del
ENST00000428257.5:c.882-11_885del
ENST00000493324.5:n.906-11_909del
NM_001145293.1:c.882-11_885del
NM_001145294.1:c.756-11_759del
NM_001145295.1:c.882-11_885del
NM_018297.3:c.882-11_885del
XM_005265316.1:c.882-11_885del
XM_005265317.1:c.882-11_885del
XM_011533944.1:c.651-11_654del
XM_011533945.1:c.882-11_885del
XR_940470.1:n.935-11_938del
XR_940471.1:n.935-11_938del
XM_017006839.2:c.882-11_885del
XR_001740200.2:n.935-11_938del
XR_002959548.1:n.935-11_938del
XR_940471.2:n.935-11_938del
NM_018297.4:c.882-11_885del
NM_001145293.2:c.882-11_885del
NM_001145294.2:c.756-11_759del
NM_001145295.2:c.882-11_885del