Canonical Allele Identifier: CA6893586
Gene: POLE HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.132665439_132665440del , CM000674.2:g.132665439_132665440del GRCh38
NC_000012.11:g.133242025_133242026del , CM000674.1:g.133242025_133242026del GRCh37
NC_000012.10:g.131752098_131752099del NCBI36
NG_033840.1:g.27086_27087del , LRG_789:g.27086_27087del

Transcript Alleles

HGVS Amino-acid Change
ENST00000699982.1:c.2185_2186del
ENST00000699983.1:c.2185_2186del
ENST00000699984.1:c.2185_2186del
ENST00000320574.10:c.2331_2332del MANE Select ENSP00000322570.5:p.Lys778AlafsTer12
ENST00000672742.1:c.*1833_*1834del ENSP00000500279.1:n.*1833_*1834del
ENST00000320574.9:c.2331_2332del ENSP00000322570.5:p.Lys778AlafsTer12
ENST00000535270.5:c.2250_2251del ENSP00000445753.1:p.Lys751AlafsTer12
ENST00000537064.5:c.*1378_*1379del ENSP00000442578.1:n.*1378_*1379del
NM_006231.3:c.2331_2332del , LRG_789t1:c.2331_2332del NP_006222.2:p.Lys778AlafsTer12
XM_011534795.1:c.2331_2332del XP_011533097.1:p.Lys778AlafsTer12
XM_011534796.1:c.2202_2203del XP_011533098.1:p.Lys735AlafsTer12
XM_011534797.1:c.1410_1411del XP_011533099.1:p.Lys471AlafsTer12
XM_011534798.1:c.993_994del XP_011533100.1:p.Lys332AlafsTer12
XM_011534799.1:c.2331_2332del XP_011533101.1:p.Lys778AlafsTer12
XM_011534800.1:c.2331_2332del XP_011533102.1:p.Lys778AlafsTer12
XM_011534801.1:c.2331_2332del XP_011533103.1:p.Lys778AlafsTer12
XR_941395.1:n.2540_2541del
XM_011534795.3:c.2331_2332del XP_011533097.1:p.Lys778AlafsTer12
XM_011534797.3:c.1410_1411del XP_011533099.1:p.Lys471AlafsTer12
XM_011534799.2:c.2331_2332del XP_011533101.1:p.Lys778AlafsTer12
XR_002957338.1:n.2535_2536del
XR_002957339.1:n.2535_2536del
XR_941395.2:n.2535_2536del
NM_006231.4:c.2331_2332del MANE Select NP_006222.2:p.Lys778AlafsTer12
Search 100 bp 5'
Search 100 bp 3'