Canonical Allele Identifier: CA584723014

Gene: UTP23

Linked Data

• dbSNP Id: rs1293681417
• gnomAD v2: 8-117784010-AAAAG-A
• gnomAD v4: 8-116771771-AAAAG-A
• MyVariant Identifiers: chr8:g.117784011_117784014del (hg19) ; chr8:g.116771772_116771775del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.116771775_116771778del , CM000670.2:g.116771775_116771778del	GRCh38
NC_000008.10:g.117784014_117784017del , CM000670.1:g.117784014_117784017del	GRCh37
NC_000008.9:g.117853195_117853198del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309822.7:c.683_686del MANE Select	ENSP00000308332.2:p.Arg228LysfsTer?
ENST00000309822.6:c.683_686del	ENSP00000308332.2:p.Arg228LysfsTer?
ENST00000517814.1:c.363+1409_363+1412del	ENSP00000429962.1:n.363+1409_363+1412del
ENST00000517820.1:c.188+4984_188+4987del	ENSP00000427767.1:n.188+4984_188+4987del
ENST00000520733.5:c.45+1409_45+1412del	ENSP00000429384.1:n.45+1409_45+1412del
ENST00000521071.1:c.188+4984_188+4987del	ENSP00000430029.1:n.188+4984_188+4987del
ENST00000521703.5:c.188+4984_188+4987del	ENSP00000428455.1:n.188+4984_188+4987del
ENST00000521974.1:n.589_592del
ENST00000524128.1:c.45+1409_45+1412del	ENSP00000430309.1:n.45+1409_45+1412del
NM_032334.2:c.683_686del	NP_115710.2:p.Arg228LysfsTer?
XM_005251080.2:c.363+1409_363+1412del	XP_005251137.2:n.363+1409_363+1412del
XR_928356.1:n.411+1409_411+1412del
XR_928357.1:n.411+1409_411+1412del
NM_032334.3:c.683_686del MANE Select	NP_115710.2:p.Arg228LysfsTer?