Canonical Allele Identifier: CA184923270

Gene: UTP23

Linked Data

• dbSNP Id: rs566498794
• gnomAD v2: 8-117783588-AAAAAT-A
• gnomAD v3: 8-116771349-AAAAAT-A
• gnomAD v4: 8-116771349-AAAAAT-A
• MyVariant Identifiers: chr8:g.117783589_117783593del (hg19) ; chr8:g.116771350_116771354del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.116771355_116771359del , CM000670.2:g.116771355_116771359del	GRCh38
NC_000008.10:g.117783594_117783598del , CM000670.1:g.117783594_117783598del	GRCh37
NC_000008.9:g.117852775_117852779del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309822.7:c.364-101_364-97del MANE Select	ENSP00000308332.2:n.364-101_364-97del
ENST00000309822.6:c.364-101_364-97del	ENSP00000308332.2:n.364-101_364-97del
ENST00000517814.1:c.363+989_363+993del	ENSP00000429962.1:n.363+989_363+993del
ENST00000517820.1:c.188+4564_188+4568del	ENSP00000427767.1:n.188+4564_188+4568del
ENST00000520733.5:c.45+989_45+993del	ENSP00000429384.1:n.45+989_45+993del
ENST00000521071.1:c.188+4564_188+4568del	ENSP00000430029.1:n.188+4564_188+4568del
ENST00000521703.5:c.188+4564_188+4568del	ENSP00000428455.1:n.188+4564_188+4568del
ENST00000521974.1:n.270-101_270-97del
ENST00000524128.1:c.45+989_45+993del	ENSP00000430309.1:n.45+989_45+993del
NM_032334.2:c.364-101_364-97del	NP_115710.2:n.364-101_364-97del
XM_005251080.2:c.363+989_363+993del	XP_005251137.2:n.363+989_363+993del
XR_928356.1:n.411+989_411+993del
XR_928357.1:n.411+989_411+993del
NM_032334.3:c.364-101_364-97del MANE Select	NP_115710.2:n.364-101_364-97del