Canonical Allele Identifier: CA143903

Gene: NGLY1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.25719536del , CM000665.2:g.25719536del	GRCh38
NC_000003.11:g.25761027del , CM000665.1:g.25761027del	GRCh37
NC_000003.10:g.25736031del	NCBI36
NG_034108.1:g.75506del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280700.10:c.1891del MANE Select	ENSP00000280700.5:p.Gln631SerfsTer7
ENST00000463611.2:c.*1982del	ENSP00000501918.1:n.*1982del
ENST00000674841.1:n.2014del
ENST00000675178.1:n.1152del
ENST00000675217.1:c.*1264del	ENSP00000502195.1:n.*1264del
ENST00000675234.1:c.*1388del	ENSP00000502740.1:n.*1388del
ENST00000675680.1:c.1205del
ENST00000676225.1:c.1861del	ENSP00000501622.1:p.Gln621SerfsTer7
ENST00000280699.13:c.1642del
ENST00000280700.9:c.1891del	ENSP00000280700.5:p.Gln631SerfsTer7
ENST00000308710.9:c.1828del	ENSP00000307980.5:p.Gln610SerfsTer7
ENST00000396649.7:c.*36del	ENSP00000379886.3:n.*36del
ENST00000417874.6:c.1765del	ENSP00000389888.2:p.Gln589SerfsTer7
ENST00000428257.5:c.1837del	ENSP00000387430.1:p.Gln613SerfsTer7
ENST00000467224.5:n.463del
ENST00000489271.5:n.1698del
ENST00000493324.5:n.2794del
ENST00000496726.5:n.2941del
NM_001145293.1:c.1837del	NP_001138765.1:p.Gln613SerfsTer7
NM_001145294.1:c.1765del	NP_001138766.1:p.Gln589SerfsTer7
NM_001145295.1:c.*36del	NP_001138767.1:n.*36del
NM_018297.3:c.1891del	NP_060767.2:p.Gln631SerfsTer7
XM_005265316.1:c.1726del	XP_005265373.1:p.Gln576SerfsTer7
XM_005265317.1:c.*36del	XP_005265374.1:n.*36del
XM_011533944.1:c.1660del	XP_011532246.1:p.Gln554SerfsTer7
XR_940471.1:n.2036del
XR_001740200.2:n.1871del
XR_002959548.1:n.1798del
XR_940471.2:n.2036del
NM_018297.4:c.1891del MANE Select	NP_060767.2:p.Gln631SerfsTer7
NM_001145293.2:c.1837del	NP_001138765.1:p.Gln613SerfsTer7
NM_001145294.2:c.1765del	NP_001138766.1:p.Gln589SerfsTer7
NM_001145295.2:c.*36del	NP_001138767.1:n.*36del