Canonical Allele Identifier: CA584816144

Gene: UTP23

Linked Data

• gnomAD v2: 8-117783787-CA-C
• gnomAD v4: 8-116771548-CA-C
• MyVariant Identifiers: chr8:g.117783788del (hg19) ; chr8:g.116771549del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.116771552del , CM000670.2:g.116771552del	GRCh38
NC_000008.10:g.117783791del , CM000670.1:g.117783791del	GRCh37
NC_000008.9:g.117852972del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309822.7:c.460del MANE Select	ENSP00000308332.2:p.Thr154GlnfsTer5
ENST00000309822.6:c.460del	ENSP00000308332.2:p.Thr154GlnfsTer5
ENST00000517814.1:c.363+1186del	ENSP00000429962.1:n.363+1186del
ENST00000517820.1:c.188+4761del	ENSP00000427767.1:n.188+4761del
ENST00000520733.5:c.45+1186del	ENSP00000429384.1:n.45+1186del
ENST00000521071.1:c.188+4761del	ENSP00000430029.1:n.188+4761del
ENST00000521703.5:c.188+4761del	ENSP00000428455.1:n.188+4761del
ENST00000521974.1:n.366del
ENST00000524128.1:c.45+1186del	ENSP00000430309.1:n.45+1186del
NM_032334.2:c.460del	NP_115710.2:p.Thr154GlnfsTer5
XM_005251080.2:c.363+1186del	XP_005251137.2:n.363+1186del
XR_928356.1:n.411+1186del
XR_928357.1:n.411+1186del
NM_032334.3:c.460del MANE Select	NP_115710.2:p.Thr154GlnfsTer5