Canonical Allele Identifier: CA1352483361

Gene: NGLY1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.25737467_25737468delinsAG , CM000665.2:g.25737467_25737468delinsAG	GRCh38
NC_000003.11:g.25778958_25778959delinsAG , CM000665.1:g.25778958_25778959delinsAG	GRCh37
NC_000003.10:g.25753962_25753963delinsAG	NCBI36
NG_034108.1:g.57572_57573delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280700.10:c.882-13_882-12delinsCT MANE Select	ENSP00000280700.5:n.882-13_882-12delinsCT
ENST00000463611.2:c.*973-13_*973-12delinsCT	ENSP00000501918.1:n.*973-13_*973-12delinsCT
ENST00000674841.1:n.1005-13_1005-12delinsCT
ENST00000675178.1:n.168-3486_168-3485delinsCT
ENST00000675217.1:c.*255-13_*255-12delinsCT	ENSP00000502195.1:n.*255-13_*255-12delinsCT
ENST00000675234.1:c.*379-13_*379-12delinsCT	ENSP00000502740.1:n.*379-13_*379-12delinsCT
ENST00000675680.1:c.391-1068_391-1067delinsCT
ENST00000676225.1:c.882-1068_882-1067delinsCT	ENSP00000501622.1:n.882-1068_882-1067delinsCT
ENST00000280699.13:c.633-13_633-12delinsCT
ENST00000280700.9:c.882-13_882-12delinsCT	ENSP00000280700.5:n.882-13_882-12delinsCT
ENST00000308710.9:c.873-13_873-12delinsCT	ENSP00000307980.5:n.873-13_873-12delinsCT
ENST00000396649.7:c.882-13_882-12delinsCT	ENSP00000379886.3:n.882-13_882-12delinsCT
ENST00000417874.6:c.756-13_756-12delinsCT	ENSP00000389888.2:n.756-13_756-12delinsCT
ENST00000428257.5:c.882-13_882-12delinsCT	ENSP00000387430.1:n.882-13_882-12delinsCT
ENST00000493324.5:n.906-13_906-12delinsCT
NM_001145293.1:c.882-13_882-12delinsCT	NP_001138765.1:n.882-13_882-12delinsCT
NM_001145294.1:c.756-13_756-12delinsCT	NP_001138766.1:n.756-13_756-12delinsCT
NM_001145295.1:c.882-13_882-12delinsCT	NP_001138767.1:n.882-13_882-12delinsCT
NM_018297.3:c.882-13_882-12delinsCT	NP_060767.2:n.882-13_882-12delinsCT
XM_005265316.1:c.882-13_882-12delinsCT	XP_005265373.1:n.882-13_882-12delinsCT
XM_005265317.1:c.882-13_882-12delinsCT	XP_005265374.1:n.882-13_882-12delinsCT
XM_011533944.1:c.651-13_651-12delinsCT	XP_011532246.1:n.651-13_651-12delinsCT
XM_011533945.1:c.882-13_882-12delinsCT	XP_011532247.1:n.882-13_882-12delinsCT
XR_940470.1:n.935-13_935-12delinsCT
XR_940471.1:n.935-13_935-12delinsCT
XM_017006839.2:c.882-13_882-12delinsCT	XP_016862328.1:n.882-13_882-12delinsCT
XR_001740200.2:n.935-13_935-12delinsCT
XR_002959548.1:n.935-13_935-12delinsCT
XR_940471.2:n.935-13_935-12delinsCT
NM_018297.4:c.882-13_882-12delinsCT MANE Select	NP_060767.2:n.882-13_882-12delinsCT
NM_001145293.2:c.882-13_882-12delinsCT	NP_001138765.1:n.882-13_882-12delinsCT
NM_001145294.2:c.756-13_756-12delinsCT	NP_001138766.1:n.756-13_756-12delinsCT
NM_001145295.2:c.882-13_882-12delinsCT	NP_001138767.1:n.882-13_882-12delinsCT