Canonical Allele Identifier: CA2781877058

Gene: UTP23

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.116771800_116771801insACAAAACAA , CM000670.2:g.116771800_116771801insACAAAACAA	GRCh38
NC_000008.10:g.117784039_117784040insACAAAACAA , CM000670.1:g.117784039_117784040insACAAAACAA	GRCh37
NC_000008.9:g.117853220_117853221insACAAAACAA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309822.7:c.708_709insACAAAACAA MANE Select	ENSP00000308332.2:p.Asn236_Pro237insThrLysGln
ENST00000309822.6:c.708_709insACAAAACAA	ENSP00000308332.2:p.Asn236_Pro237insThrLysGln
ENST00000517814.1:c.363+1434_363+1435insACAAAACAA	ENSP00000429962.1:n.363+1434_363+1435insACAAAACAA
ENST00000517820.1:c.188+5009_188+5010insACAAAACAA	ENSP00000427767.1:n.188+5009_188+5010insACAAAACAA
ENST00000520733.5:c.45+1434_45+1435insACAAAACAA	ENSP00000429384.1:n.45+1434_45+1435insACAAAACAA
ENST00000521071.1:c.188+5009_188+5010insACAAAACAA	ENSP00000430029.1:n.188+5009_188+5010insACAAAACAA
ENST00000521703.5:c.188+5009_188+5010insACAAAACAA	ENSP00000428455.1:n.188+5009_188+5010insACAAAACAA
ENST00000524128.1:c.45+1434_45+1435insACAAAACAA	ENSP00000430309.1:n.45+1434_45+1435insACAAAACAA
NM_032334.2:c.708_709insACAAAACAA	NP_115710.2:p.Asn236_Pro237insThrLysGln
XM_005251080.2:c.363+1434_363+1435insACAAAACAA	XP_005251137.2:n.363+1434_363+1435insACAAAACAA
XR_928356.1:n.411+1434_411+1435insACAAAACAA
XR_928357.1:n.411+1434_411+1435insACAAAACAA
NM_032334.3:c.708_709insACAAAACAA MANE Select	NP_115710.2:p.Asn236_Pro237insThrLysGln