Canonical Allele Identifier: CA2579233844

Gene: UTP23

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.116771590del , CM000670.2:g.116771590del	GRCh38
NC_000008.10:g.117783829del , CM000670.1:g.117783829del	GRCh37
NC_000008.9:g.117853010del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309822.7:c.498del MANE Select	ENSP00000308332.2:p.Val167SerfsTer18
ENST00000309822.6:c.498del	ENSP00000308332.2:p.Val167SerfsTer18
ENST00000517814.1:c.363+1224del	ENSP00000429962.1:n.363+1224del
ENST00000517820.1:c.188+4799del	ENSP00000427767.1:n.188+4799del
ENST00000520733.5:c.45+1224del	ENSP00000429384.1:n.45+1224del
ENST00000521071.1:c.188+4799del	ENSP00000430029.1:n.188+4799del
ENST00000521703.5:c.188+4799del	ENSP00000428455.1:n.188+4799del
ENST00000521974.1:n.404del
ENST00000524128.1:c.45+1224del	ENSP00000430309.1:n.45+1224del
NM_032334.2:c.498del	NP_115710.2:p.Val167SerfsTer18
XM_005251080.2:c.363+1224del	XP_005251137.2:n.363+1224del
XR_928356.1:n.411+1224del
XR_928357.1:n.411+1224del
NM_032334.3:c.498del MANE Select	NP_115710.2:p.Val167SerfsTer18