Canonical Allele Identifier: CA2838278279

Gene: UTP23

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.116771768_116771769insTTGTTTTGG , CM000670.2:g.116771768_116771769insTTGTTTTGG	GRCh38
NC_000008.10:g.117784007_117784008insTTGTTTTGG , CM000670.1:g.117784007_117784008insTTGTTTTGG	GRCh37
NC_000008.9:g.117853188_117853189insTTGTTTTGG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309822.7:c.676_677insTTGTTTTGG MANE Select	ENSP00000308332.2:p.Arg226delinsIleValLeuGly
ENST00000309822.6:c.676_677insTTGTTTTGG	ENSP00000308332.2:p.Arg226delinsIleValLeuGly
ENST00000517814.1:c.363+1402_363+1403insTTGTTTTGG	ENSP00000429962.1:n.363+1402_363+1403insTTGTTTTGG
ENST00000517820.1:c.188+4977_188+4978insTTGTTTTGG	ENSP00000427767.1:n.188+4977_188+4978insTTGTTTTGG
ENST00000520733.5:c.45+1402_45+1403insTTGTTTTGG	ENSP00000429384.1:n.45+1402_45+1403insTTGTTTTGG
ENST00000521071.1:c.188+4977_188+4978insTTGTTTTGG	ENSP00000430029.1:n.188+4977_188+4978insTTGTTTTGG
ENST00000521703.5:c.188+4977_188+4978insTTGTTTTGG	ENSP00000428455.1:n.188+4977_188+4978insTTGTTTTGG
ENST00000521974.1:n.582_583insTTGTTTTGG
ENST00000524128.1:c.45+1402_45+1403insTTGTTTTGG	ENSP00000430309.1:n.45+1402_45+1403insTTGTTTTGG
NM_032334.2:c.676_677insTTGTTTTGG	NP_115710.2:p.Arg226delinsIleValLeuGly
XM_005251080.2:c.363+1402_363+1403insTTGTTTTGG	XP_005251137.2:n.363+1402_363+1403insTTGTTTTGG
XR_928356.1:n.411+1402_411+1403insTTGTTTTGG
XR_928357.1:n.411+1402_411+1403insTTGTTTTGG
NM_032334.3:c.676_677insTTGTTTTGG MANE Select	NP_115710.2:p.Arg226delinsIleValLeuGly