Canonical Allele Identifier: CA1813484351

Gene: UTP23

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.116771758_116771761delinsTGAA , CM000670.2:g.116771758_116771761delinsTGAA	GRCh38
NC_000008.10:g.117783997_117784000delinsTGAA , CM000670.1:g.117783997_117784000delinsTGAA	GRCh37
NC_000008.9:g.117853178_117853181delinsTGAA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309822.7:c.666_669delinsTGAA MANE Select	ENSP00000308332.2:p.Ser222=
ENST00000309822.6:c.666_669delinsTGAA	ENSP00000308332.2:p.Ser222=
ENST00000517814.1:c.363+1392_363+1395delinsTGAA	ENSP00000429962.1:n.363+1392_363+1395delinsTGAA
ENST00000517820.1:c.188+4967_188+4970delinsTGAA	ENSP00000427767.1:n.188+4967_188+4970delinsTGAA
ENST00000520733.5:c.45+1392_45+1395delinsTGAA	ENSP00000429384.1:n.45+1392_45+1395delinsTGAA
ENST00000521071.1:c.188+4967_188+4970delinsTGAA	ENSP00000430029.1:n.188+4967_188+4970delinsTGAA
ENST00000521703.5:c.188+4967_188+4970delinsTGAA	ENSP00000428455.1:n.188+4967_188+4970delinsTGAA
ENST00000521974.1:n.572_575delinsTGAA
ENST00000524128.1:c.45+1392_45+1395delinsTGAA	ENSP00000430309.1:n.45+1392_45+1395delinsTGAA
NM_032334.2:c.666_669delinsTGAA	NP_115710.2:p.Ser222=
XM_005251080.2:c.363+1392_363+1395delinsTGAA	XP_005251137.2:n.363+1392_363+1395delinsTGAA
XR_928356.1:n.411+1392_411+1395delinsTGAA
XR_928357.1:n.411+1392_411+1395delinsTGAA
NM_032334.3:c.666_669delinsTGAA MANE Select	NP_115710.2:p.Ser222=