Canonical Allele Identifier: CA4852631

Gene: UTP23

Linked Data

• dbSNP Id: rs113693140
• ExAC: 8:117783992 GCTT / G
• gnomAD v2: 8-117783992-GCTT-G
• gnomAD v3: 8-116771753-GCTT-G
• gnomAD v4: 8-116771753-GCTT-G
• MyVariant Identifiers: chr8:g.117783993_117783995del (hg19) ; chr8:g.116771755_116771757del (hg38) ; chr8:g.116771754_116771756del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.116771756_116771758del , CM000670.2:g.116771756_116771758del	GRCh38
NC_000008.10:g.117783995_117783997del , CM000670.1:g.117783995_117783997del	GRCh37
NC_000008.9:g.117853176_117853178del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309822.7:c.664_666del MANE Select	ENSP00000308332.2:p.Ser222del
ENST00000309822.6:c.664_666del	ENSP00000308332.2:p.Ser222del
ENST00000517814.1:c.363+1390_363+1392del	ENSP00000429962.1:n.363+1390_363+1392del
ENST00000517820.1:c.188+4965_188+4967del	ENSP00000427767.1:n.188+4965_188+4967del
ENST00000520733.5:c.45+1390_45+1392del	ENSP00000429384.1:n.45+1390_45+1392del
ENST00000521071.1:c.188+4965_188+4967del	ENSP00000430029.1:n.188+4965_188+4967del
ENST00000521703.5:c.188+4965_188+4967del	ENSP00000428455.1:n.188+4965_188+4967del
ENST00000521974.1:n.570_572del
ENST00000524128.1:c.45+1390_45+1392del	ENSP00000430309.1:n.45+1390_45+1392del
NM_032334.2:c.664_666del	NP_115710.2:p.Ser222del
XM_005251080.2:c.363+1390_363+1392del	XP_005251137.2:n.363+1390_363+1392del
XR_928356.1:n.411+1390_411+1392del
XR_928357.1:n.411+1390_411+1392del
NM_032334.3:c.664_666del MANE Select	NP_115710.2:p.Ser222del