Canonical Allele Identifier: CA846142119

Gene: UTP23

Linked Data

• dbSNP Id: rs1238152606
• MyVariant Identifiers: chr8:g.117783586_117783601del (hg19) ; chr8:g.116771347_116771362del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.116771350_116771365del , CM000670.2:g.116771350_116771365del	GRCh38
NC_000008.10:g.117783589_117783604del , CM000670.1:g.117783589_117783604del	GRCh37
NC_000008.9:g.117852770_117852785del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309822.7:c.364-106_364-91del MANE Select	ENSP00000308332.2:n.364-106_364-91del
ENST00000309822.6:c.364-106_364-91del	ENSP00000308332.2:n.364-106_364-91del
ENST00000517814.1:c.363+984_363+999del	ENSP00000429962.1:n.363+984_363+999del
ENST00000517820.1:c.188+4559_188+4574del	ENSP00000427767.1:n.188+4559_188+4574del
ENST00000520733.5:c.45+984_45+999del	ENSP00000429384.1:n.45+984_45+999del
ENST00000521071.1:c.188+4559_188+4574del	ENSP00000430029.1:n.188+4559_188+4574del
ENST00000521703.5:c.188+4559_188+4574del	ENSP00000428455.1:n.188+4559_188+4574del
ENST00000521974.1:n.270-106_270-91del
ENST00000524128.1:c.45+984_45+999del	ENSP00000430309.1:n.45+984_45+999del
NM_032334.2:c.364-106_364-91del	NP_115710.2:n.364-106_364-91del
XM_005251080.2:c.363+984_363+999del	XP_005251137.2:n.363+984_363+999del
XR_928356.1:n.411+984_411+999del
XR_928357.1:n.411+984_411+999del
NM_032334.3:c.364-106_364-91del MANE Select	NP_115710.2:n.364-106_364-91del