Canonical Allele Identifier: CA2688329627

Gene: UTP23

Linked Data

• gnomAD v4: 8-116771358-ATCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.116771359_116771361del , CM000670.2:g.116771359_116771361del	GRCh38
NC_000008.10:g.117783598_117783600del , CM000670.1:g.117783598_117783600del	GRCh37
NC_000008.9:g.117852779_117852781del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309822.7:c.364-97_364-95del MANE Select	ENSP00000308332.2:n.364-97_364-95del
ENST00000309822.6:c.364-97_364-95del	ENSP00000308332.2:n.364-97_364-95del
ENST00000517814.1:c.363+993_363+995del	ENSP00000429962.1:n.363+993_363+995del
ENST00000517820.1:c.188+4568_188+4570del	ENSP00000427767.1:n.188+4568_188+4570del
ENST00000520733.5:c.45+993_45+995del	ENSP00000429384.1:n.45+993_45+995del
ENST00000521071.1:c.188+4568_188+4570del	ENSP00000430029.1:n.188+4568_188+4570del
ENST00000521703.5:c.188+4568_188+4570del	ENSP00000428455.1:n.188+4568_188+4570del
ENST00000521974.1:n.270-97_270-95del
ENST00000524128.1:c.45+993_45+995del	ENSP00000430309.1:n.45+993_45+995del
NM_032334.2:c.364-97_364-95del	NP_115710.2:n.364-97_364-95del
XM_005251080.2:c.363+993_363+995del	XP_005251137.2:n.363+993_363+995del
XR_928356.1:n.411+993_411+995del
XR_928357.1:n.411+993_411+995del
NM_032334.3:c.364-97_364-95del MANE Select	NP_115710.2:n.364-97_364-95del