Canonical Allele Identifier: CA2534042366

Gene: UTP23

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.116771486_116771487del , CM000670.2:g.116771486_116771487del	GRCh38
NC_000008.10:g.117783725_117783726del , CM000670.1:g.117783725_117783726del	GRCh37
NC_000008.9:g.117852906_117852907del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309822.7:c.394_395del MANE Select	ENSP00000308332.2:p.Lys132AlafsTer?
ENST00000309822.6:c.394_395del	ENSP00000308332.2:p.Lys132AlafsTer?
ENST00000517814.1:c.363+1120_363+1121del	ENSP00000429962.1:n.363+1120_363+1121del
ENST00000517820.1:c.188+4695_188+4696del	ENSP00000427767.1:n.188+4695_188+4696del
ENST00000520733.5:c.45+1120_45+1121del	ENSP00000429384.1:n.45+1120_45+1121del
ENST00000521071.1:c.188+4695_188+4696del	ENSP00000430029.1:n.188+4695_188+4696del
ENST00000521703.5:c.188+4695_188+4696del	ENSP00000428455.1:n.188+4695_188+4696del
ENST00000521974.1:n.300_301del
ENST00000524128.1:c.45+1120_45+1121del	ENSP00000430309.1:n.45+1120_45+1121del
NM_032334.2:c.394_395del	NP_115710.2:p.Lys132AlafsTer?
XM_005251080.2:c.363+1120_363+1121del	XP_005251137.2:n.363+1120_363+1121del
XR_928356.1:n.411+1120_411+1121del
XR_928357.1:n.411+1120_411+1121del
NM_032334.3:c.394_395del MANE Select	NP_115710.2:p.Lys132AlafsTer?