Canonical Allele Identifier: CA1813484413

Gene: UTP23

Linked Data

• dbSNP Id: rs1815659212

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.116771783_116771784insCT , CM000670.2:g.116771783_116771784insCT	GRCh38
NC_000008.10:g.117784022_117784023insCT , CM000670.1:g.117784022_117784023insCT	GRCh37
NC_000008.9:g.117853203_117853204insCT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309822.7:c.691_692insCT MANE Select	ENSP00000308332.2:p.Ile231ThrfsTer?
ENST00000309822.6:c.691_692insCT	ENSP00000308332.2:p.Ile231ThrfsTer?
ENST00000517814.1:c.363+1417_363+1418insCT	ENSP00000429962.1:n.363+1417_363+1418insCT
ENST00000517820.1:c.188+4992_188+4993insCT	ENSP00000427767.1:n.188+4992_188+4993insCT
ENST00000520733.5:c.45+1417_45+1418insCT	ENSP00000429384.1:n.45+1417_45+1418insCT
ENST00000521071.1:c.188+4992_188+4993insCT	ENSP00000430029.1:n.188+4992_188+4993insCT
ENST00000521703.5:c.188+4992_188+4993insCT	ENSP00000428455.1:n.188+4992_188+4993insCT
ENST00000524128.1:c.45+1417_45+1418insCT	ENSP00000430309.1:n.45+1417_45+1418insCT
NM_032334.2:c.691_692insCT	NP_115710.2:p.Ile231ThrfsTer?
XM_005251080.2:c.363+1417_363+1418insCT	XP_005251137.2:n.363+1417_363+1418insCT
XR_928356.1:n.411+1417_411+1418insCT
XR_928357.1:n.411+1417_411+1418insCT
NM_032334.3:c.691_692insCT MANE Select	NP_115710.2:p.Ile231ThrfsTer?