Canonical Allele Identifier: CA685555190

Gene: POLE

Linked Data

• ClinVar Variation Id: 573425
• ClinVar RCV Id: RCV003540727
• dbSNP Id: rs1347535436
• MyVariant Identifiers: chr12:g.133249859_133249860del (hg19) ; chr12:g.132673273_132673274del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132673275_132673276del , CM000674.2:g.132673275_132673276del	GRCh38
NC_000012.11:g.133249861_133249862del , CM000674.1:g.133249861_133249862del	GRCh37
NC_000012.10:g.131759934_131759935del	NCBI36
NG_033840.1:g.19251_19252del , LRG_789:g.19251_19252del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.71_72del
ENST00000545015.2:n.1390_1391del
ENST00000699982.1:c.1217_1218del
ENST00000699983.1:c.1217_1218del
ENST00000699984.1:c.1217_1218del
ENST00000320574.10:c.1363_1364del MANE Select	ENSP00000322570.5:p.Leu455GlyfsTer?
ENST00000672742.1:c.*865_*866del	ENSP00000500279.1:n.*865_*866del
ENST00000320574.9:c.1363_1364del	ENSP00000322570.5:p.Leu455GlyfsTer?
ENST00000535270.5:c.1282_1283del	ENSP00000445753.1:p.Leu428GlyfsTer?
ENST00000535934.2:n.1238_1239del
ENST00000537064.5:c.*410_*411del	ENSP00000442578.1:n.*410_*411del
ENST00000539215.5:n.71_72del
NM_006231.3:c.1363_1364del , LRG_789t1:c.1363_1364del	NP_006222.2:p.Leu455GlyfsTer?
XM_011534795.1:c.1363_1364del	XP_011533097.1:p.Leu455GlyfsTer?
XM_011534796.1:c.1234_1235del	XP_011533098.1:p.Leu412GlyfsTer?
XM_011534797.1:c.442_443del	XP_011533099.1:p.Leu148GlyfsTer?
XM_011534798.1:c.25_26del	XP_011533100.1:p.Leu9GlyfsTer?
XM_011534799.1:c.1363_1364del	XP_011533101.1:p.Leu455GlyfsTer?
XM_011534800.1:c.1363_1364del	XP_011533102.1:p.Leu455GlyfsTer?
XM_011534801.1:c.1363_1364del	XP_011533103.1:p.Leu455GlyfsTer?
XR_941395.1:n.1572_1573del
XM_011534795.3:c.1363_1364del	XP_011533097.1:p.Leu455GlyfsTer?
XM_011534797.3:c.442_443del	XP_011533099.1:p.Leu148GlyfsTer?
XM_011534799.2:c.1363_1364del	XP_011533101.1:p.Leu455GlyfsTer?
XR_002957338.1:n.1567_1568del
XR_002957339.1:n.1567_1568del
XR_941395.2:n.1567_1568del
NM_006231.4:c.1363_1364del MANE Select	NP_006222.2:p.Leu455GlyfsTer?