Canonical Allele Identifier: CA2664804572

Gene: NGLY1

Linked Data

• gnomAD v4: 3-25737454-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.25737455del , CM000665.2:g.25737455del	GRCh38
NC_000003.11:g.25778946del , CM000665.1:g.25778946del	GRCh37
NC_000003.10:g.25753950del	NCBI36
NG_034108.1:g.57585del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280700.10:c.882del MANE Select	ENSP00000280700.5:p.Arg294SerfsTer30
ENST00000463611.2:c.*973del	ENSP00000501918.1:n.*973del
ENST00000674841.1:n.1005del
ENST00000675178.1:n.168-3473del
ENST00000675217.1:c.*255del	ENSP00000502195.1:n.*255del
ENST00000675234.1:c.*379del	ENSP00000502740.1:n.*379del
ENST00000675680.1:c.391-1055del
ENST00000676225.1:c.882-1055del	ENSP00000501622.1:n.882-1055del
ENST00000280699.13:c.633del
ENST00000280700.9:c.882del	ENSP00000280700.5:p.Arg294SerfsTer30
ENST00000308710.9:c.873del	ENSP00000307980.5:p.Arg291SerfsTer30
ENST00000396649.7:c.882del	ENSP00000379886.3:p.Arg294SerfsTer30
ENST00000417874.6:c.756del	ENSP00000389888.2:p.Arg252SerfsTer30
ENST00000428257.5:c.882del	ENSP00000387430.1:p.Arg294SerfsTer30
ENST00000493324.5:n.906del
NM_001145293.1:c.882del	NP_001138765.1:p.Arg294SerfsTer30
NM_001145294.1:c.756del	NP_001138766.1:p.Arg252SerfsTer30
NM_001145295.1:c.882del	NP_001138767.1:p.Arg294SerfsTer30
NM_018297.3:c.882del	NP_060767.2:p.Arg294SerfsTer30
XM_005265316.1:c.882del	XP_005265373.1:p.Arg294SerfsTer30
XM_005265317.1:c.882del	XP_005265374.1:p.Arg294SerfsTer30
XM_011533944.1:c.651del	XP_011532246.1:p.Arg217SerfsTer30
XM_011533945.1:c.882del	XP_011532247.1:p.Arg294SerfsTer30
XR_940470.1:n.935del
XR_940471.1:n.935del
XM_017006839.2:c.882del	XP_016862328.1:p.Arg294SerfsTer30
XR_001740200.2:n.935del
XR_002959548.1:n.935del
XR_940471.2:n.935del
NM_018297.4:c.882del MANE Select	NP_060767.2:p.Arg294SerfsTer30
NM_001145293.2:c.882del	NP_001138765.1:p.Arg294SerfsTer30
NM_001145294.2:c.756del	NP_001138766.1:p.Arg252SerfsTer30
NM_001145295.2:c.882del	NP_001138767.1:p.Arg294SerfsTer30