Canonical Allele Identifier: CA1813484354

Gene: UTP23

Linked Data

• dbSNP Id: rs1815658143

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.116771759_116771761del , CM000670.2:g.116771759_116771761del	GRCh38
NC_000008.10:g.117783998_117784000del , CM000670.1:g.117783998_117784000del	GRCh37
NC_000008.9:g.117853179_117853181del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309822.7:c.667_669del MANE Select	ENSP00000308332.2:p.Glu223del
ENST00000309822.6:c.667_669del	ENSP00000308332.2:p.Glu223del
ENST00000517814.1:c.363+1393_363+1395del	ENSP00000429962.1:n.363+1393_363+1395del
ENST00000517820.1:c.188+4968_188+4970del	ENSP00000427767.1:n.188+4968_188+4970del
ENST00000520733.5:c.45+1393_45+1395del	ENSP00000429384.1:n.45+1393_45+1395del
ENST00000521071.1:c.188+4968_188+4970del	ENSP00000430029.1:n.188+4968_188+4970del
ENST00000521703.5:c.188+4968_188+4970del	ENSP00000428455.1:n.188+4968_188+4970del
ENST00000521974.1:n.573_575del
ENST00000524128.1:c.45+1393_45+1395del	ENSP00000430309.1:n.45+1393_45+1395del
NM_032334.2:c.667_669del	NP_115710.2:p.Glu223del
XM_005251080.2:c.363+1393_363+1395del	XP_005251137.2:n.363+1393_363+1395del
XR_928356.1:n.411+1393_411+1395del
XR_928357.1:n.411+1393_411+1395del
NM_032334.3:c.667_669del MANE Select	NP_115710.2:p.Glu223del