Canonical Allele Identifier: CA1813484347

Gene: UTP23

Linked Data

• dbSNP Id: rs1815657976

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.116771756_116771769del , CM000670.2:g.116771756_116771769del	GRCh38
NC_000008.10:g.117783995_117784008del , CM000670.1:g.117783995_117784008del	GRCh37
NC_000008.9:g.117853176_117853189del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309822.7:c.664_677del MANE Select	ENSP00000308332.2:p.Ser222LysfsTer10
ENST00000309822.6:c.664_677del	ENSP00000308332.2:p.Ser222LysfsTer10
ENST00000517814.1:c.363+1390_363+1403del	ENSP00000429962.1:n.363+1390_363+1403del
ENST00000517820.1:c.188+4965_188+4978del	ENSP00000427767.1:n.188+4965_188+4978del
ENST00000520733.5:c.45+1390_45+1403del	ENSP00000429384.1:n.45+1390_45+1403del
ENST00000521071.1:c.188+4965_188+4978del	ENSP00000430029.1:n.188+4965_188+4978del
ENST00000521703.5:c.188+4965_188+4978del	ENSP00000428455.1:n.188+4965_188+4978del
ENST00000521974.1:n.570_583del
ENST00000524128.1:c.45+1390_45+1403del	ENSP00000430309.1:n.45+1390_45+1403del
NM_032334.2:c.664_677del	NP_115710.2:p.Ser222LysfsTer10
XM_005251080.2:c.363+1390_363+1403del	XP_005251137.2:n.363+1390_363+1403del
XR_928356.1:n.411+1390_411+1403del
XR_928357.1:n.411+1390_411+1403del
NM_032334.3:c.664_677del MANE Select	NP_115710.2:p.Ser222LysfsTer10