Canonical Allele Identifier: CA658658210
Gene: POLE HGNC NCBI

Linked Data

ClinVar Variation Id: 473720
dbSNP Id: rs1555222342

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.132641763del , CM000674.2:g.132641763del GRCh38
NC_000012.11:g.133218349del , CM000674.1:g.133218349del GRCh37
NC_000012.10:g.131728422del NCBI36
NG_033840.1:g.50765del , LRG_789:g.50765del

Transcript Alleles

HGVS Amino-acid Change
ENST00000416953.3:n.2806del
ENST00000434528.5:c.174del ENSP00000500921.1:p.Ile59SerfsTer5
ENST00000544870.6:c.2938del ENSP00000479927.2:n.2938del
ENST00000699981.1:n.2919del
ENST00000699982.1:c.5119del
ENST00000699983.1:c.5823del
ENST00000699984.1:c.5119del
ENST00000320574.10:c.5265del MANE Select ENSP00000322570.5:p.Ile1756SerfsTer5
ENST00000434528.4:c.174del ENSP00000500921.1:p.Ile59SerfsTer5
ENST00000672002.1:c.2938del ENSP00000500233.1:n.2938del
ENST00000672742.1:c.*5471del ENSP00000500279.1:n.*5471del
ENST00000320574.9:c.5265del ENSP00000322570.5:p.Ile1756SerfsTer5
ENST00000535270.5:c.5184del ENSP00000445753.1:p.Ile1729SerfsTer5
ENST00000537064.5:c.*5016del ENSP00000442578.1:n.*5016del
ENST00000542362.1:n.122del
NM_006231.3:c.5265del , LRG_789t1:c.5265del NP_006222.2:p.Ile1756SerfsTer5
XM_011534795.1:c.5265del XP_011533097.1:p.Ile1756SerfsTer5
XM_011534796.1:c.5136del XP_011533098.1:p.Ile1713SerfsTer5
XM_011534797.1:c.4344del XP_011533099.1:p.Ile1449SerfsTer5
XM_011534798.1:c.3927del XP_011533100.1:p.Ile1310SerfsTer5
XM_011534799.1:c.5265del XP_011533101.1:p.Ile1756SerfsTer5
XM_011534800.1:c.5265del XP_011533102.1:p.Ile1756SerfsTer5
XM_011534802.1:c.2253del XP_011533104.1:p.Ile752SerfsTer5
XM_011534795.3:c.5265del XP_011533097.1:p.Ile1756SerfsTer5
XM_011534797.3:c.4344del XP_011533099.1:p.Ile1449SerfsTer5
XM_011534799.2:c.5265del XP_011533101.1:p.Ile1756SerfsTer5
XM_011534802.3:c.2253del XP_011533104.1:p.Ile752SerfsTer5
XR_002957338.1:n.5469del
XR_002957339.1:n.5469del
XR_941395.2:n.5518del
NM_006231.4:c.5265del MANE Select NP_006222.2:p.Ile1756SerfsTer5