Canonical Allele Identifier: CA2840299732

Gene: POLE

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132672292dup , CM000674.2:g.132672292dup	GRCh38
NC_000012.11:g.133248878dup , CM000674.1:g.133248878dup	GRCh37
NC_000012.10:g.131758951dup	NCBI36
NG_033840.1:g.20233dup , LRG_789:g.20233dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.472dup
ENST00000699982.1:c.1571dup
ENST00000699983.1:c.1571dup
ENST00000699984.1:c.1571dup
ENST00000320574.10:c.1717dup MANE Select	ENSP00000322570.5:p.Arg573ProfsTer3
ENST00000672742.1:c.*1219dup	ENSP00000500279.1:n.*1219dup
ENST00000320574.9:c.1717dup	ENSP00000322570.5:p.Arg573ProfsTer3
ENST00000535270.5:c.1636dup	ENSP00000445753.1:p.Arg546ProfsTer3
ENST00000537064.5:c.*764dup	ENSP00000442578.1:n.*764dup
ENST00000539215.5:n.472dup
NM_006231.3:c.1717dup , LRG_789t1:c.1717dup	NP_006222.2:p.Arg573ProfsTer3
XM_011534795.1:c.1717dup	XP_011533097.1:p.Arg573ProfsTer3
XM_011534796.1:c.1588dup	XP_011533098.1:p.Arg530ProfsTer3
XM_011534797.1:c.796dup	XP_011533099.1:p.Arg266ProfsTer3
XM_011534798.1:c.379dup	XP_011533100.1:p.Arg127ProfsTer3
XM_011534799.1:c.1717dup	XP_011533101.1:p.Arg573ProfsTer3
XM_011534800.1:c.1717dup	XP_011533102.1:p.Arg573ProfsTer3
XM_011534801.1:c.1717dup	XP_011533103.1:p.Arg573ProfsTer3
XR_941395.1:n.1926dup
XM_011534795.3:c.1717dup	XP_011533097.1:p.Arg573ProfsTer3
XM_011534797.3:c.796dup	XP_011533099.1:p.Arg266ProfsTer3
XM_011534799.2:c.1717dup	XP_011533101.1:p.Arg573ProfsTer3
XR_002957338.1:n.1921dup
XR_002957339.1:n.1921dup
XR_941395.2:n.1921dup
NM_006231.4:c.1717dup MANE Select	NP_006222.2:p.Arg573ProfsTer3