Canonical Allele Identifier: CA1813484272

Gene: UTP23

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.116771715_116771721delinsTGAAGAA , CM000670.2:g.116771715_116771721delinsTGAAGAA	GRCh38
NC_000008.10:g.117783954_117783960delinsTGAAGAA , CM000670.1:g.117783954_117783960delinsTGAAGAA	GRCh37
NC_000008.9:g.117853135_117853141delinsTGAAGAA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309822.7:c.623_629delinsTGAAGAA MANE Select	ENSP00000308332.2:p.Leu208=
ENST00000309822.6:c.623_629delinsTGAAGAA	ENSP00000308332.2:p.Leu208=
ENST00000517814.1:c.363+1349_363+1355delinsTGAAGAA	ENSP00000429962.1:n.363+1349_363+1355delinsTGAAGAA
ENST00000517820.1:c.188+4924_188+4930delinsTGAAGAA	ENSP00000427767.1:n.188+4924_188+4930delinsTGAAGAA
ENST00000520733.5:c.45+1349_45+1355delinsTGAAGAA	ENSP00000429384.1:n.45+1349_45+1355delinsTGAAGAA
ENST00000521071.1:c.188+4924_188+4930delinsTGAAGAA	ENSP00000430029.1:n.188+4924_188+4930delinsTGAAGAA
ENST00000521703.5:c.188+4924_188+4930delinsTGAAGAA	ENSP00000428455.1:n.188+4924_188+4930delinsTGAAGAA
ENST00000521974.1:n.529_535delinsTGAAGAA
ENST00000524128.1:c.45+1349_45+1355delinsTGAAGAA	ENSP00000430309.1:n.45+1349_45+1355delinsTGAAGAA
NM_032334.2:c.623_629delinsTGAAGAA	NP_115710.2:p.Leu208=
XM_005251080.2:c.363+1349_363+1355delinsTGAAGAA	XP_005251137.2:n.363+1349_363+1355delinsTGAAGAA
XR_928356.1:n.411+1349_411+1355delinsTGAAGAA
XR_928357.1:n.411+1349_411+1355delinsTGAAGAA
NM_032334.3:c.623_629delinsTGAAGAA MANE Select	NP_115710.2:p.Leu208=