Canonical Allele Identifier: CA584816151

Gene: UTP23

Linked Data

• dbSNP Id: rs1305078321
• gnomAD v2: 8-117783504-CTG-C
• gnomAD v3: 8-116771265-CTG-C
• gnomAD v4: 8-116771265-CTG-C
• MyVariant Identifiers: chr8:g.117783505_117783506del (hg19) ; chr8:g.116771266_116771267del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.116771268_116771269del , CM000670.2:g.116771268_116771269del	GRCh38
NC_000008.10:g.117783507_117783508del , CM000670.1:g.117783507_117783508del	GRCh37
NC_000008.9:g.117852688_117852689del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309822.7:c.364-188_364-187del MANE Select	ENSP00000308332.2:n.364-188_364-187del
ENST00000309822.6:c.364-188_364-187del	ENSP00000308332.2:n.364-188_364-187del
ENST00000517814.1:c.363+902_363+903del	ENSP00000429962.1:n.363+902_363+903del
ENST00000517820.1:c.188+4477_188+4478del	ENSP00000427767.1:n.188+4477_188+4478del
ENST00000520733.5:c.45+902_45+903del	ENSP00000429384.1:n.45+902_45+903del
ENST00000521071.1:c.188+4477_188+4478del	ENSP00000430029.1:n.188+4477_188+4478del
ENST00000521703.5:c.188+4477_188+4478del	ENSP00000428455.1:n.188+4477_188+4478del
ENST00000521974.1:n.270-188_270-187del
ENST00000524128.1:c.45+902_45+903del	ENSP00000430309.1:n.45+902_45+903del
NM_032334.2:c.364-188_364-187del	NP_115710.2:n.364-188_364-187del
XM_005251080.2:c.363+902_363+903del	XP_005251137.2:n.363+902_363+903del
XR_928356.1:n.411+902_411+903del
XR_928357.1:n.411+902_411+903del
NM_032334.3:c.364-188_364-187del MANE Select	NP_115710.2:n.364-188_364-187del