Canonical Allele Identifier: CA250282
Gene: NGLY1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.25732378dup , CM000665.2:g.25732378dup GRCh38
NC_000003.11:g.25773869dup , CM000665.1:g.25773869dup GRCh37
NC_000003.10:g.25748873dup NCBI36
NG_034108.1:g.62666dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000280700.10:c.1370dup MANE Select ENSP00000280700.5:p.Arg458LysfsTer14
ENST00000463611.2:c.*1461dup ENSP00000501918.1:n.*1461dup
ENST00000674841.1:n.1493dup
ENST00000675178.1:n.388dup
ENST00000675217.1:c.*743dup ENSP00000502195.1:n.*743dup
ENST00000675234.1:c.*867dup ENSP00000502740.1:n.*867dup
ENST00000675680.1:c.739+1498dup
ENST00000676225.1:c.1340dup ENSP00000501622.1:p.Arg448LysfsTer14
ENST00000280699.13:c.1121dup
ENST00000280700.9:c.1370dup ENSP00000280700.5:p.Arg458LysfsTer14
ENST00000308710.9:c.1307dup ENSP00000307980.5:p.Arg437LysfsTer14
ENST00000396649.7:c.1370dup ENSP00000379886.3:p.Arg458LysfsTer14
ENST00000417874.6:c.1244dup ENSP00000389888.2:p.Arg416LysfsTer14
ENST00000428257.5:c.1316dup ENSP00000387430.1:p.Arg440LysfsTer14
ENST00000467224.5:n.113+1498dup
ENST00000493324.5:n.2273dup
ENST00000496726.5:n.2475+1498dup
NM_001145293.1:c.1316dup NP_001138765.1:p.Arg440LysfsTer14
NM_001145294.1:c.1244dup NP_001138766.1:p.Arg416LysfsTer14
NM_001145295.1:c.1370dup NP_001138767.1:p.Arg458LysfsTer14
NM_018297.3:c.1370dup NP_060767.2:p.Arg458LysfsTer14
XM_005265316.1:c.1260+1498dup XP_005265373.1:n.1260+1498dup
XM_005265317.1:c.1260+1498dup XP_005265374.1:n.1260+1498dup
XM_011533944.1:c.1139dup XP_011532246.1:p.Arg381LysfsTer14
XR_940470.1:n.1423dup
XR_940471.1:n.1515dup
XM_017006839.2:c.1370dup XP_016862328.1:p.Arg458LysfsTer14
XR_001740200.2:n.1405+1498dup
XR_002959548.1:n.1277dup
XR_940471.2:n.1515dup
NM_018297.4:c.1370dup MANE Select NP_060767.2:p.Arg458LysfsTer14
NM_001145293.2:c.1316dup NP_001138765.1:p.Arg440LysfsTer14
NM_001145294.2:c.1244dup NP_001138766.1:p.Arg416LysfsTer14
NM_001145295.2:c.1370dup NP_001138767.1:p.Arg458LysfsTer14