Canonical Allele Identifier: CA2688329856

Gene: UTP23

Linked Data

• gnomAD v4: 8-116771568-AAGCAGTGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.116771571_116771578del , CM000670.2:g.116771571_116771578del	GRCh38
NC_000008.10:g.117783810_117783817del , CM000670.1:g.117783810_117783817del	GRCh37
NC_000008.9:g.117852991_117852998del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309822.7:c.479_486del MANE Select	ENSP00000308332.2:p.Ala160ValfsTer9
ENST00000309822.6:c.479_486del	ENSP00000308332.2:p.Ala160ValfsTer9
ENST00000517814.1:c.363+1205_363+1212del	ENSP00000429962.1:n.363+1205_363+1212del
ENST00000517820.1:c.188+4780_188+4787del	ENSP00000427767.1:n.188+4780_188+4787del
ENST00000520733.5:c.45+1205_45+1212del	ENSP00000429384.1:n.45+1205_45+1212del
ENST00000521071.1:c.188+4780_188+4787del	ENSP00000430029.1:n.188+4780_188+4787del
ENST00000521703.5:c.188+4780_188+4787del	ENSP00000428455.1:n.188+4780_188+4787del
ENST00000521974.1:n.385_392del
ENST00000524128.1:c.45+1205_45+1212del	ENSP00000430309.1:n.45+1205_45+1212del
NM_032334.2:c.479_486del	NP_115710.2:p.Ala160ValfsTer9
XM_005251080.2:c.363+1205_363+1212del	XP_005251137.2:n.363+1205_363+1212del
XR_928356.1:n.411+1205_411+1212del
XR_928357.1:n.411+1205_411+1212del
NM_032334.3:c.479_486del MANE Select	NP_115710.2:p.Ala160ValfsTer9