Canonical Allele Identifier: CA2289352

Gene: NGLY1

Linked Data

• ClinVar Variation Id: 421762
• ClinVar RCV Id: RCV000485745 ; RCV002063782
• dbSNP Id: rs762807225
• ExAC: 3:25778959 G / GA
• gnomAD v2: 3-25778959-G-GA
• gnomAD v3: 3-25737468-G-GA
• gnomAD v4: 3-25737468-G-GA
• MyVariant Identifiers: chr3:g.25778960dupA (hg19) ; chr3:g.25778960_25778961insA (hg19) ; chr3:g.25778959_25778960insA (hg19) ; chr3:g.25737469dupA (hg38) ; chr3:g.25737469_25737470insA (hg38) ; chr3:g.25737468_25737469insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.25737476dup , CM000665.2:g.25737476dup	GRCh38
NC_000003.11:g.25778967dup , CM000665.1:g.25778967dup	GRCh37
NC_000003.10:g.25753971dup	NCBI36
NG_034108.1:g.57571dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280700.10:c.882-14dup MANE Select	ENSP00000280700.5:n.882-14dup
ENST00000463611.2:c.*973-14dup	ENSP00000501918.1:n.*973-14dup
ENST00000674841.1:n.1005-14dup
ENST00000675178.1:n.168-3487dup
ENST00000675217.1:c.*255-14dup	ENSP00000502195.1:n.*255-14dup
ENST00000675234.1:c.*379-14dup	ENSP00000502740.1:n.*379-14dup
ENST00000675680.1:c.391-1069dup
ENST00000676225.1:c.882-1069dup	ENSP00000501622.1:n.882-1069dup
ENST00000280699.13:c.633-14dup
ENST00000280700.9:c.882-14dup	ENSP00000280700.5:n.882-14dup
ENST00000308710.9:c.873-14dup	ENSP00000307980.5:n.873-14dup
ENST00000396649.7:c.882-14dup	ENSP00000379886.3:n.882-14dup
ENST00000417874.6:c.756-14dup	ENSP00000389888.2:n.756-14dup
ENST00000428257.5:c.882-14dup	ENSP00000387430.1:n.882-14dup
ENST00000493324.5:n.906-14dup
NM_001145293.1:c.882-14dup	NP_001138765.1:n.882-14dup
NM_001145294.1:c.756-14dup	NP_001138766.1:n.756-14dup
NM_001145295.1:c.882-14dup	NP_001138767.1:n.882-14dup
NM_018297.3:c.882-14dup	NP_060767.2:n.882-14dup
XM_005265316.1:c.882-14dup	XP_005265373.1:n.882-14dup
XM_005265317.1:c.882-14dup	XP_005265374.1:n.882-14dup
XM_011533944.1:c.651-14dup	XP_011532246.1:n.651-14dup
XM_011533945.1:c.882-14dup	XP_011532247.1:n.882-14dup
XR_940470.1:n.935-14dup
XR_940471.1:n.935-14dup
XM_017006839.2:c.882-14dup	XP_016862328.1:n.882-14dup
XR_001740200.2:n.935-14dup
XR_002959548.1:n.935-14dup
XR_940471.2:n.935-14dup
NM_018297.4:c.882-14dup MANE Select	NP_060767.2:n.882-14dup
NM_001145293.2:c.882-14dup	NP_001138765.1:n.882-14dup
NM_001145294.2:c.756-14dup	NP_001138766.1:n.756-14dup
NM_001145295.2:c.882-14dup	NP_001138767.1:n.882-14dup