Canonical Allele Identifier: CA1813484364

Gene: UTP23

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.116771764_116771777delinsGAAAAGAAAAAGAA , CM000670.2:g.116771764_116771777delinsGAAAAGAAAAAGAA	GRCh38
NC_000008.10:g.117784003_117784016delinsGAAAAGAAAAAGAA , CM000670.1:g.117784003_117784016delinsGAAAAGAAAAAGAA	GRCh37
NC_000008.9:g.117853184_117853197delinsGAAAAGAAAAAGAA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309822.7:c.672_685delinsGAAAAGAAAAAGAA MANE Select	ENSP00000308332.2:p.Lys224=
ENST00000309822.6:c.672_685delinsGAAAAGAAAAAGAA	ENSP00000308332.2:p.Lys224=
ENST00000517814.1:c.363+1398_363+1411delinsGAAAAGAAAAAGAA	ENSP00000429962.1:n.363+1398_363+1411delinsGAAAAGAAAAAGAA
ENST00000517820.1:c.188+4973_188+4986delinsGAAAAGAAAAAGAA	ENSP00000427767.1:n.188+4973_188+4986delinsGAAAAGAAAAAGAA
ENST00000520733.5:c.45+1398_45+1411delinsGAAAAGAAAAAGAA	ENSP00000429384.1:n.45+1398_45+1411delinsGAAAAGAAAAAGAA
ENST00000521071.1:c.188+4973_188+4986delinsGAAAAGAAAAAGAA	ENSP00000430029.1:n.188+4973_188+4986delinsGAAAAGAAAAAGAA
ENST00000521703.5:c.188+4973_188+4986delinsGAAAAGAAAAAGAA	ENSP00000428455.1:n.188+4973_188+4986delinsGAAAAGAAAAAGAA
ENST00000521974.1:n.578_591delinsGAAAAGAAAAAGAA
ENST00000524128.1:c.45+1398_45+1411delinsGAAAAGAAAAAGAA	ENSP00000430309.1:n.45+1398_45+1411delinsGAAAAGAAAAAGAA
NM_032334.2:c.672_685delinsGAAAAGAAAAAGAA	NP_115710.2:p.Lys224=
XM_005251080.2:c.363+1398_363+1411delinsGAAAAGAAAAAGAA	XP_005251137.2:n.363+1398_363+1411delinsGAAAAGAAAAAGAA
XR_928356.1:n.411+1398_411+1411delinsGAAAAGAAAAAGAA
XR_928357.1:n.411+1398_411+1411delinsGAAAAGAAAAAGAA
NM_032334.3:c.672_685delinsGAAAAGAAAAAGAA MANE Select	NP_115710.2:p.Lys224=