Canonical Allele Identifier: CA584816146

Gene: UTP23

Linked Data

• dbSNP Id: rs1282943392
• gnomAD v2: 8-117783924-A-ACTGT
• MyVariant Identifiers: chr8:g.117783924_117783925insCTGT (hg19) ; chr8:g.116771685_116771686insCTGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.116771685_116771686insCTGT , CM000670.2:g.116771685_116771686insCTGT	GRCh38
NC_000008.10:g.117783924_117783925insCTGT , CM000670.1:g.117783924_117783925insCTGT	GRCh37
NC_000008.9:g.117853105_117853106insCTGT	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000309822.7:c.593_594insCTGT MANE Select	ENSP00000308332.2:p.Lys198AsnfsTer10
ENST00000309822.6:c.593_594insCTGT	ENSP00000308332.2:p.Lys198AsnfsTer10
ENST00000517814.1:c.363+1319_363+1320insCTGT	ENSP00000429962.1:n.363+1319_363+1320insC...
ENST00000517820.1:c.188+4894_188+4895insCTGT	ENSP00000427767.1:n.188+4894_188+4895insC...
ENST00000520733.5:c.45+1319_45+1320insCTGT	ENSP00000429384.1:n.45+1319_45+1320insCTG...
ENST00000521071.1:c.188+4894_188+4895insCTGT	ENSP00000430029.1:n.188+4894_188+4895insC...
ENST00000521703.5:c.188+4894_188+4895insCTGT	ENSP00000428455.1:n.188+4894_188+4895insC...
ENST00000521974.1:n.499_500insCTGT
ENST00000524128.1:c.45+1319_45+1320insCTGT	ENSP00000430309.1:n.45+1319_45+1320insCTG...
NM_032334.2:c.593_594insCTGT	NP_115710.2:p.Lys198AsnfsTer10
XM_005251080.2:c.363+1319_363+1320insCTGT	XP_005251137.2:n.363+1319_363+1320insCTGT...
XR_928356.1:n.411+1319_411+1320insCTGT
XR_928357.1:n.411+1319_411+1320insCTGT
NM_032334.3:c.593_594insCTGT MANE Select	NP_115710.2:p.Lys198AsnfsTer10