Canonical Allele Identifier: CA1134102971

Gene: OGT

Linked Data

• dbSNP Id: rs2040333104
• gnomAD v3: X-71555108-ACCAT-A
• gnomAD v4: X-71555108-ACCAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71555113_71555116del , CM000685.2:g.71555113_71555116del	GRCh38
NC_000023.10:g.70774963_70774966del , CM000685.1:g.70774963_70774966del	GRCh37
NC_000023.9:g.70691688_70691691del	NCBI36
NG_015875.1:g.27052_27055del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699749.1:c.660-77_660-74del	ENSP00000514559.1:n.660-77_660-74del
ENST00000699750.1:c.*588-77_*588-74del	ENSP00000514560.1:n.*588-77_*588-74del
ENST00000699751.1:n.1278+521_1278+524del
ENST00000699779.1:c.*3597-77_*3597-74del	ENSP00000514585.1:n.*3597-77_*3597-74del
ENST00000699780.1:c.728+521_728+524del	ENSP00000514586.1:n.728+521_728+524del
ENST00000699781.1:c.*332+521_*332+524del	ENSP00000514587.1:n.*332+521_*332+524del
ENST00000699782.1:c.630-77_630-74del	ENSP00000514588.1:n.630-77_630-74del
ENST00000699783.1:c.699-77_699-74del	ENSP00000514589.1:n.699-77_699-74del
ENST00000699784.1:c.699-77_699-74del	ENSP00000514590.1:n.699-77_699-74del
ENST00000699785.1:c.*734-77_*734-74del	ENSP00000514591.1:n.*734-77_*734-74del
ENST00000373719.8:c.729-77_729-74del MANE Select	ENSP00000362824.3:n.729-77_729-74del
ENST00000373701.7:c.699-77_699-74del	ENSP00000362805.3:n.699-77_699-74del
ENST00000373719.7:c.729-77_729-74del	ENSP00000362824.3:n.729-77_729-74del
ENST00000455587.3:n.608-77_608-74del
ENST00000459760.1:n.106-77_106-74del
ENST00000488174.5:n.4165+521_4165+524del
NM_181672.2:c.729-77_729-74del	NP_858058.1:n.729-77_729-74del
NM_181673.2:c.699-77_699-74del	NP_858059.1:n.699-77_699-74del
XM_005262308.1:c.-220+521_-220+524del	XP_005262365.1:n.-220+521_-220+524del
XM_017029908.1:c.-220+521_-220+524del	XP_016885397.1:n.-220+521_-220+524del
XM_024452467.1:c.-220+521_-220+524del	XP_024308235.1:n.-220+521_-220+524del
NM_181672.3:c.729-77_729-74del MANE Select	NP_858058.1:n.729-77_729-74del
NM_181673.3:c.699-77_699-74del	NP_858059.1:n.699-77_699-74del