Canonical Allele Identifier: CA1813484451

Gene: UTP23

Linked Data

• dbSNP Id: rs1815659926

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.116771806_116771807del , CM000670.2:g.116771806_116771807del	GRCh38
NC_000008.10:g.117784045_117784046del , CM000670.1:g.117784045_117784046del	GRCh37
NC_000008.9:g.117853226_117853227del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309822.7:c.714_715del MANE Select	ENSP00000308332.2:p.Lys238AsnfsTer4
ENST00000309822.6:c.714_715del	ENSP00000308332.2:p.Lys238AsnfsTer4
ENST00000517814.1:c.363+1440_363+1441del	ENSP00000429962.1:n.363+1440_363+1441del
ENST00000517820.1:c.188+5015_188+5016del	ENSP00000427767.1:n.188+5015_188+5016del
ENST00000520733.5:c.45+1440_45+1441del	ENSP00000429384.1:n.45+1440_45+1441del
ENST00000521071.1:c.188+5015_188+5016del	ENSP00000430029.1:n.188+5015_188+5016del
ENST00000521703.5:c.188+5015_188+5016del	ENSP00000428455.1:n.188+5015_188+5016del
ENST00000524128.1:c.45+1440_45+1441del	ENSP00000430309.1:n.45+1440_45+1441del
NM_032334.2:c.714_715del	NP_115710.2:p.Lys238AsnfsTer4
XM_005251080.2:c.363+1440_363+1441del	XP_005251137.2:n.363+1440_363+1441del
XR_928356.1:n.411+1440_411+1441del
XR_928357.1:n.411+1440_411+1441del
NM_032334.3:c.714_715del MANE Select	NP_115710.2:p.Lys238AsnfsTer4