Canonical Allele Identifier: CA1813484404

Gene: UTP23

Linked Data

• dbSNP Id: rs1166540536
• gnomAD v3: 8-116771775-GAAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.116771778_116771780del , CM000670.2:g.116771778_116771780del	GRCh38
NC_000008.10:g.117784017_117784019del , CM000670.1:g.117784017_117784019del	GRCh37
NC_000008.9:g.117853198_117853200del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309822.7:c.686_688del MANE Select	ENSP00000308332.2:p.Lys229del
ENST00000309822.6:c.686_688del	ENSP00000308332.2:p.Lys229del
ENST00000517814.1:c.363+1412_363+1414del	ENSP00000429962.1:n.363+1412_363+1414del
ENST00000517820.1:c.188+4987_188+4989del	ENSP00000427767.1:n.188+4987_188+4989del
ENST00000520733.5:c.45+1412_45+1414del	ENSP00000429384.1:n.45+1412_45+1414del
ENST00000521071.1:c.188+4987_188+4989del	ENSP00000430029.1:n.188+4987_188+4989del
ENST00000521703.5:c.188+4987_188+4989del	ENSP00000428455.1:n.188+4987_188+4989del
ENST00000521974.1:n.592_594del
ENST00000524128.1:c.45+1412_45+1414del	ENSP00000430309.1:n.45+1412_45+1414del
NM_032334.2:c.686_688del	NP_115710.2:p.Lys229del
XM_005251080.2:c.363+1412_363+1414del	XP_005251137.2:n.363+1412_363+1414del
XR_928356.1:n.411+1412_411+1414del
XR_928357.1:n.411+1412_411+1414del
NM_032334.3:c.686_688del MANE Select	NP_115710.2:p.Lys229del