Canonical Allele Identifier: CA1134102980

Gene: OGT

Linked Data

• dbSNP Id: rs2040333343
• gnomAD v3: X-71555132-TTTTGTG-T
• gnomAD v4: X-71555132-TTTTGTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71555134_71555139del , CM000685.2:g.71555134_71555139del	GRCh38
NC_000023.10:g.70774984_70774989del , CM000685.1:g.70774984_70774989del	GRCh37
NC_000023.9:g.70691709_70691714del	NCBI36
NG_015875.1:g.27073_27078del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699749.1:c.660-56_660-51del	ENSP00000514559.1:n.660-56_660-51del
ENST00000699750.1:c.*588-56_*588-51del	ENSP00000514560.1:n.*588-56_*588-51del
ENST00000699751.1:n.1278+542_1278+547del
ENST00000699779.1:c.*3597-56_*3597-51del	ENSP00000514585.1:n.*3597-56_*3597-51del
ENST00000699780.1:c.728+542_728+547del	ENSP00000514586.1:n.728+542_728+547del
ENST00000699781.1:c.*332+542_*332+547del	ENSP00000514587.1:n.*332+542_*332+547del
ENST00000699782.1:c.630-56_630-51del	ENSP00000514588.1:n.630-56_630-51del
ENST00000699783.1:c.699-56_699-51del	ENSP00000514589.1:n.699-56_699-51del
ENST00000699784.1:c.699-56_699-51del	ENSP00000514590.1:n.699-56_699-51del
ENST00000699785.1:c.*734-56_*734-51del	ENSP00000514591.1:n.*734-56_*734-51del
ENST00000373719.8:c.729-56_729-51del MANE Select	ENSP00000362824.3:n.729-56_729-51del
ENST00000373701.7:c.699-56_699-51del	ENSP00000362805.3:n.699-56_699-51del
ENST00000373719.7:c.729-56_729-51del	ENSP00000362824.3:n.729-56_729-51del
ENST00000455587.3:n.608-56_608-51del
ENST00000459760.1:n.106-56_106-51del
ENST00000488174.5:n.4165+542_4165+547del
NM_181672.2:c.729-56_729-51del	NP_858058.1:n.729-56_729-51del
NM_181673.2:c.699-56_699-51del	NP_858059.1:n.699-56_699-51del
XM_005262308.1:c.-220+542_-220+547del	XP_005262365.1:n.-220+542_-220+547del
XM_017029908.1:c.-220+542_-220+547del	XP_016885397.1:n.-220+542_-220+547del
XM_024452467.1:c.-220+542_-220+547del	XP_024308235.1:n.-220+542_-220+547del
NM_181672.3:c.729-56_729-51del MANE Select	NP_858058.1:n.729-56_729-51del
NM_181673.3:c.699-56_699-51del	NP_858059.1:n.699-56_699-51del