Canonical Allele Identifier: CA2838278280

Gene: UTP23

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.116771739_116771740insAGAA , CM000670.2:g.116771739_116771740insAGAA	GRCh38
NC_000008.10:g.117783978_117783979insAGAA , CM000670.1:g.117783978_117783979insAGAA	GRCh37
NC_000008.9:g.117853159_117853160insAGAA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309822.7:c.647_648insAGAA MANE Select	ENSP00000308332.2:p.Asp216GlufsTer9
ENST00000309822.6:c.647_648insAGAA	ENSP00000308332.2:p.Asp216GlufsTer9
ENST00000517814.1:c.363+1373_363+1374insAGAA	ENSP00000429962.1:n.363+1373_363+1374insAGAA
ENST00000517820.1:c.188+4948_188+4949insAGAA	ENSP00000427767.1:n.188+4948_188+4949insAGAA
ENST00000520733.5:c.45+1373_45+1374insAGAA	ENSP00000429384.1:n.45+1373_45+1374insAGAA
ENST00000521071.1:c.188+4948_188+4949insAGAA	ENSP00000430029.1:n.188+4948_188+4949insAGAA
ENST00000521703.5:c.188+4948_188+4949insAGAA	ENSP00000428455.1:n.188+4948_188+4949insAGAA
ENST00000521974.1:n.553_554insAGAA
ENST00000524128.1:c.45+1373_45+1374insAGAA	ENSP00000430309.1:n.45+1373_45+1374insAGAA
NM_032334.2:c.647_648insAGAA	NP_115710.2:p.Asp216GlufsTer9
XM_005251080.2:c.363+1373_363+1374insAGAA	XP_005251137.2:n.363+1373_363+1374insAGAA
XR_928356.1:n.411+1373_411+1374insAGAA
XR_928357.1:n.411+1373_411+1374insAGAA
NM_032334.3:c.647_648insAGAA MANE Select	NP_115710.2:p.Asp216GlufsTer9