Canonical Allele Identifier: CA1813484204

Gene: UTP23

Linked Data

• dbSNP Id: rs1815654386

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.116771654_116771655insTAGTGTT , CM000670.2:g.116771654_116771655insTAGTGTT	GRCh38
NC_000008.10:g.117783893_117783894insTAGTGTT , CM000670.1:g.117783893_117783894insTAGTGTT	GRCh37
NC_000008.9:g.117853074_117853075insTAGTGTT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309822.7:c.562_563insTAGTGTT MANE Select	ENSP00000308332.2:p.Thr188IlefsTer4
ENST00000309822.6:c.562_563insTAGTGTT	ENSP00000308332.2:p.Thr188IlefsTer4
ENST00000517814.1:c.363+1288_363+1289insTAGTGTT	ENSP00000429962.1:n.363+1288_363+1289insTAGTGTT
ENST00000517820.1:c.188+4863_188+4864insTAGTGTT	ENSP00000427767.1:n.188+4863_188+4864insTAGTGTT
ENST00000520733.5:c.45+1288_45+1289insTAGTGTT	ENSP00000429384.1:n.45+1288_45+1289insTAGTGTT
ENST00000521071.1:c.188+4863_188+4864insTAGTGTT	ENSP00000430029.1:n.188+4863_188+4864insTAGTGTT
ENST00000521703.5:c.188+4863_188+4864insTAGTGTT	ENSP00000428455.1:n.188+4863_188+4864insTAGTGTT
ENST00000521974.1:n.468_469insTAGTGTT
ENST00000524128.1:c.45+1288_45+1289insTAGTGTT	ENSP00000430309.1:n.45+1288_45+1289insTAGTGTT
NM_032334.2:c.562_563insTAGTGTT	NP_115710.2:p.Thr188IlefsTer4
XM_005251080.2:c.363+1288_363+1289insTAGTGTT	XP_005251137.2:n.363+1288_363+1289insTAGTGTT
XR_928356.1:n.411+1288_411+1289insTAGTGTT
XR_928357.1:n.411+1288_411+1289insTAGTGTT
NM_032334.3:c.562_563insTAGTGTT MANE Select	NP_115710.2:p.Thr188IlefsTer4