Canonical Allele Identifier: CA6892160
Gene: POLE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.132626131_132626132del , CM000674.2:g.132626131_132626132del GRCh38
NC_000012.11:g.133202717_133202718del , CM000674.1:g.133202717_133202718del GRCh37
NC_000012.10:g.131712790_131712791del NCBI36
NG_033840.1:g.66395_66396del , LRG_789:g.66395_66396del

Transcript Alleles

HGVS Amino-acid Change
NM_006231.4:c.6518_6519del MANE Select NP_006222.2:p.Ser2173PhefsTer?
ENST00000320574.10:c.6518_6519del MANE Select ENSP00000322570.5:p.Ser2173PhefsTer?
NM_006231.3:c.6518_6519del , LRG_789t1:c.6518_6519del NP_006222.2:p.Ser2173PhefsTer?
ENST00000320574.9:c.6518_6519del ENSP00000322570.5:p.Ser2173PhefsTer?
ENST00000434528.4:c.2056_2057del ENSP00000500921.1:n.2056_2057del
ENST00000434528.5:c.2056_2057del ENSP00000500921.1:n.2056_2057del
ENST00000534922.5:n.431_432del
ENST00000534922.6:n.431_432del
ENST00000535270.5:c.6437_6438del ENSP00000445753.1:p.Ser2146PhefsTer?
ENST00000537064.5:c.*6269_*6270del ENSP00000442578.1:n.*6269_*6270del
ENST00000538196.1:n.290_291del
ENST00000544692.5:n.1887_1888del
ENST00000544870.6:c.4171_4172del ENSP00000479927.2:n.4171_4172del
ENST00000672002.1:c.4191_4192del ENSP00000500233.1:n.4191_4192del
ENST00000672742.1:c.*6724_*6725del ENSP00000500279.1:n.*6724_*6725del
ENST00000699981.1:n.4172_4173del
ENST00000699982.1:c.6372_6373del
ENST00000699983.1:c.7076_7077del
ENST00000699984.1:c.6304_6305del
XM_011534795.1:c.6518_6519del XP_011533097.1:p.Ser2173PhefsTer?
XM_011534795.3:c.6518_6519del XP_011533097.1:p.Ser2173PhefsTer?
XM_011534796.1:c.6389_6390del XP_011533098.1:p.Ser2130PhefsTer?
XM_011534797.1:c.5597_5598del XP_011533099.1:p.Ser1866PhefsTer?
XM_011534797.3:c.5597_5598del XP_011533099.1:p.Ser1866PhefsTer?
XM_011534798.1:c.5180_5181del XP_011533100.1:p.Ser1727PhefsTer?
XM_011534802.1:c.3506_3507del XP_011533104.1:p.Ser1169PhefsTer?
XM_011534802.3:c.3506_3507del XP_011533104.1:p.Ser1169PhefsTer?
XR_002957339.1:n.7064_7065del