Canonical Allele Identifier: CA918349055

Gene: UTP23

Linked Data

• dbSNP Id: rs1554604953

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.116771757_116771758dup , CM000670.2:g.116771757_116771758dup	GRCh38
NC_000008.10:g.117783996_117783997dup , CM000670.1:g.117783996_117783997dup	GRCh37
NC_000008.9:g.117853177_117853178dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309822.7:c.665_666dup MANE Select	ENSP00000308332.2:p.Glu223LeufsTer?
ENST00000309822.6:c.665_666dup	ENSP00000308332.2:p.Glu223LeufsTer?
ENST00000517814.1:c.363+1391_363+1392dup	ENSP00000429962.1:n.363+1391_363+1392dup
ENST00000517820.1:c.188+4966_188+4967dup	ENSP00000427767.1:n.188+4966_188+4967dup
ENST00000520733.5:c.45+1391_45+1392dup	ENSP00000429384.1:n.45+1391_45+1392dup
ENST00000521071.1:c.188+4966_188+4967dup	ENSP00000430029.1:n.188+4966_188+4967dup
ENST00000521703.5:c.188+4966_188+4967dup	ENSP00000428455.1:n.188+4966_188+4967dup
ENST00000521974.1:n.571_572dup
ENST00000524128.1:c.45+1391_45+1392dup	ENSP00000430309.1:n.45+1391_45+1392dup
NM_032334.2:c.665_666dup	NP_115710.2:p.Glu223LeufsTer?
XM_005251080.2:c.363+1391_363+1392dup	XP_005251137.2:n.363+1391_363+1392dup
XR_928356.1:n.411+1391_411+1392dup
XR_928357.1:n.411+1391_411+1392dup
NM_032334.3:c.665_666dup MANE Select	NP_115710.2:p.Glu223LeufsTer?