Canonical Allele Identifier: CA658658181

Gene: POLE

Linked Data

• ClinVar Variation Id: 473652
• ClinVar RCV Id: RCV000554025
• dbSNP Id: rs1555223097

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132643932_132643939delinsT , CM000674.2:g.132643932_132643939delinsT	GRCh38
NC_000012.11:g.133220518_133220525delinsT , CM000674.1:g.133220518_133220525delinsT	GRCh37
NC_000012.10:g.131730591_131730598delinsT	NCBI36
NG_033840.1:g.48586_48593delinsA , LRG_789:g.48586_48593delinsA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000416953.3:n.1811_1818delinsA
ENST00000544870.6:c.1861_1868delinsA	ENSP00000479927.2:n.1861_1868delinsA
ENST00000699981.1:n.1842_1849delinsA
ENST00000699982.1:c.4042_4049delinsA
ENST00000699983.1:c.4746_4753delinsA
ENST00000699984.1:c.4042_4049delinsA
ENST00000320574.10:c.4188_4195delinsA MANE Select	ENSP00000322570.5:p.Asn1396LysfsTer?
ENST00000672002.1:c.1861_1868delinsA	ENSP00000500233.1:n.1861_1868delinsA
ENST00000672742.1:c.*4394_*4401delinsA	ENSP00000500279.1:n.*4394_*4401delinsA
ENST00000320574.9:c.4188_4195delinsA	ENSP00000322570.5:p.Asn1396LysfsTer?
ENST00000535270.5:c.4107_4114delinsA	ENSP00000445753.1:p.Asn1369LysfsTer?
ENST00000537064.5:c.*3939_*3946delinsA	ENSP00000442578.1:n.*3939_*3946delinsA
NM_006231.3:c.4188_4195delinsA , LRG_789t1:c.4188_4195delinsA	NP_006222.2:p.Asn1396LysfsTer?
XM_011534795.1:c.4188_4195delinsA	XP_011533097.1:p.Asn1396LysfsTer?
XM_011534796.1:c.4059_4066delinsA	XP_011533098.1:p.Asn1353LysfsTer?
XM_011534797.1:c.3267_3274delinsA	XP_011533099.1:p.Asn1089LysfsTer?
XM_011534798.1:c.2850_2857delinsA	XP_011533100.1:p.Asn950LysfsTer?
XM_011534799.1:c.4188_4195delinsA	XP_011533101.1:p.Asn1396LysfsTer?
XM_011534800.1:c.4188_4195delinsA	XP_011533102.1:p.Asn1396LysfsTer?
XM_011534802.1:c.1176_1183delinsA	XP_011533104.1:p.Asn392LysfsTer?
XR_941395.1:n.4446_4453delinsA
XM_011534795.3:c.4188_4195delinsA	XP_011533097.1:p.Asn1396LysfsTer?
XM_011534797.3:c.3267_3274delinsA	XP_011533099.1:p.Asn1089LysfsTer?
XM_011534799.2:c.4188_4195delinsA	XP_011533101.1:p.Asn1396LysfsTer?
XM_011534802.3:c.1176_1183delinsA	XP_011533104.1:p.Asn392LysfsTer?
XR_002957338.1:n.4392_4399delinsA
XR_002957339.1:n.4392_4399delinsA
XR_941395.2:n.4441_4448delinsA
NM_006231.4:c.4188_4195delinsA MANE Select	NP_006222.2:p.Asn1396LysfsTer?