Canonical Allele Identifier: CA541719729

Gene: NGLY1

Linked Data

• ClinVar Variation Id: 2857020
• ClinVar RCV Id: RCV003742247
• dbSNP Id: rs1559536386
• gnomAD v2: 3-25778958-A-AG
• gnomAD v4: 3-25737467-A-AG
• MyVariant Identifiers: chr3:g.25778958_25778959insG (hg19) ; chr3:g.25737467_25737468insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.25737468dup , CM000665.2:g.25737468dup	GRCh38
NC_000003.11:g.25778959dup , CM000665.1:g.25778959dup	GRCh37
NC_000003.10:g.25753963dup	NCBI36
NG_034108.1:g.57572dup

Transcript Alleles

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