Canonical Allele Identifier: CA1352483358

Gene: NGLY1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.25737462_25737463delinsTA , CM000665.2:g.25737462_25737463delinsTA	GRCh38
NC_000003.11:g.25778953_25778954delinsTA , CM000665.1:g.25778953_25778954delinsTA	GRCh37
NC_000003.10:g.25753957_25753958delinsTA	NCBI36
NG_034108.1:g.57577_57578delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280700.10:c.882-8_882-7delinsTA MANE Select	ENSP00000280700.5:n.882-8_882-7delinsTA
ENST00000463611.2:c.*973-8_*973-7delinsTA	ENSP00000501918.1:n.*973-8_*973-7delinsTA
ENST00000674841.1:n.1005-8_1005-7delinsTA
ENST00000675178.1:n.168-3481_168-3480delinsTA
ENST00000675217.1:c.*255-8_*255-7delinsTA	ENSP00000502195.1:n.*255-8_*255-7delinsTA
ENST00000675234.1:c.*379-8_*379-7delinsTA	ENSP00000502740.1:n.*379-8_*379-7delinsTA
ENST00000675680.1:c.391-1063_391-1062delinsTA
ENST00000676225.1:c.882-1063_882-1062delinsTA	ENSP00000501622.1:n.882-1063_882-1062delinsTA
ENST00000280699.13:c.633-8_633-7delinsTA
ENST00000280700.9:c.882-8_882-7delinsTA	ENSP00000280700.5:n.882-8_882-7delinsTA
ENST00000308710.9:c.873-8_873-7delinsTA	ENSP00000307980.5:n.873-8_873-7delinsTA
ENST00000396649.7:c.882-8_882-7delinsTA	ENSP00000379886.3:n.882-8_882-7delinsTA
ENST00000417874.6:c.756-8_756-7delinsTA	ENSP00000389888.2:n.756-8_756-7delinsTA
ENST00000428257.5:c.882-8_882-7delinsTA	ENSP00000387430.1:n.882-8_882-7delinsTA
ENST00000493324.5:n.906-8_906-7delinsTA
NM_001145293.1:c.882-8_882-7delinsTA	NP_001138765.1:n.882-8_882-7delinsTA
NM_001145294.1:c.756-8_756-7delinsTA	NP_001138766.1:n.756-8_756-7delinsTA
NM_001145295.1:c.882-8_882-7delinsTA	NP_001138767.1:n.882-8_882-7delinsTA
NM_018297.3:c.882-8_882-7delinsTA	NP_060767.2:n.882-8_882-7delinsTA
XM_005265316.1:c.882-8_882-7delinsTA	XP_005265373.1:n.882-8_882-7delinsTA
XM_005265317.1:c.882-8_882-7delinsTA	XP_005265374.1:n.882-8_882-7delinsTA
XM_011533944.1:c.651-8_651-7delinsTA	XP_011532246.1:n.651-8_651-7delinsTA
XM_011533945.1:c.882-8_882-7delinsTA	XP_011532247.1:n.882-8_882-7delinsTA
XR_940470.1:n.935-8_935-7delinsTA
XR_940471.1:n.935-8_935-7delinsTA
XM_017006839.2:c.882-8_882-7delinsTA	XP_016862328.1:n.882-8_882-7delinsTA
XR_001740200.2:n.935-8_935-7delinsTA
XR_002959548.1:n.935-8_935-7delinsTA
XR_940471.2:n.935-8_935-7delinsTA
NM_018297.4:c.882-8_882-7delinsTA MANE Select	NP_060767.2:n.882-8_882-7delinsTA
NM_001145293.2:c.882-8_882-7delinsTA	NP_001138765.1:n.882-8_882-7delinsTA
NM_001145294.2:c.756-8_756-7delinsTA	NP_001138766.1:n.756-8_756-7delinsTA
NM_001145295.2:c.882-8_882-7delinsTA	NP_001138767.1:n.882-8_882-7delinsTA