Canonical Allele Identifier: CA2072994575
Gene: POLE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.132659329_132659339dup , CM000674.2:g.132659329_132659339dup GRCh38
NC_000012.11:g.133235915_133235925dup , CM000674.1:g.133235915_133235925dup GRCh37
NC_000012.10:g.131745988_131745998dup NCBI36
NG_033840.1:g.33187_33197dup , LRG_789:g.33187_33197dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000544870.6:c.853_863dup ENSP00000479927.2:p.Arg289ThrfsTer?
ENST00000699982.1:c.3086_3096dup
ENST00000699983.1:c.3086_3096dup
ENST00000699984.1:c.3086_3096dup
ENST00000320574.10:c.3232_3242dup MANE Select ENSP00000322570.5:p.Arg1082ThrfsTer28
ENST00000672002.1:c.853_863dup ENSP00000500233.1:p.Arg289ThrfsTer?
ENST00000672742.1:c.*2734_*2744dup ENSP00000500279.1:n.*2734_*2744dup
ENST00000320574.9:c.3232_3242dup ENSP00000322570.5:p.Arg1082ThrfsTer28
ENST00000535270.5:c.3151_3161dup ENSP00000445753.1:p.Arg1055ThrfsTer28
ENST00000536445.5:n.1576_1586dup
ENST00000537064.5:c.*2279_*2289dup ENSP00000442578.1:n.*2279_*2289dup
NM_006231.3:c.3232_3242dup , LRG_789t1:c.3232_3242dup NP_006222.2:p.Arg1082ThrfsTer28
XM_011534795.1:c.3232_3242dup XP_011533097.1:p.Arg1082ThrfsTer28
XM_011534796.1:c.3103_3113dup XP_011533098.1:p.Arg1039ThrfsTer28
XM_011534797.1:c.2311_2321dup XP_011533099.1:p.Arg775ThrfsTer28
XM_011534798.1:c.1894_1904dup XP_011533100.1:p.Arg636ThrfsTer28
XM_011534799.1:c.3232_3242dup XP_011533101.1:p.Arg1082ThrfsTer28
XM_011534800.1:c.3232_3242dup XP_011533102.1:p.Arg1082ThrfsTer28
XM_011534801.1:c.3232_3242dup XP_011533103.1:p.Arg1082ThrfsTer28
XM_011534802.1:c.220_230dup XP_011533104.1:p.Arg78ThrfsTer28
XR_941395.1:n.3441_3451dup
XM_011534795.3:c.3232_3242dup XP_011533097.1:p.Arg1082ThrfsTer28
XM_011534797.3:c.2311_2321dup XP_011533099.1:p.Arg775ThrfsTer28
XM_011534799.2:c.3232_3242dup XP_011533101.1:p.Arg1082ThrfsTer28
XM_011534802.3:c.220_230dup XP_011533104.1:p.Arg78ThrfsTer28
XR_002957338.1:n.3436_3446dup
XR_002957339.1:n.3436_3446dup
XR_941395.2:n.3436_3446dup
NM_006231.4:c.3232_3242dup MANE Select NP_006222.2:p.Arg1082ThrfsTer28