Canonical Allele Identifier: CA2622059742
Gene: POLE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.132673158_132673161del , CM000674.2:g.132673158_132673161del GRCh38
NC_000012.11:g.133249744_133249747del , CM000674.1:g.133249744_133249747del GRCh37
NC_000012.10:g.131759817_131759820del NCBI36
NG_033840.1:g.19364_19367del , LRG_789:g.19364_19367del

Transcript Alleles

HGVS Amino-acid Change
ENST00000539215.6:c.181+3_181+6del
ENST00000545015.2:n.1500+3_1500+6del
ENST00000699982.1:c.1327+3_1327+6del
ENST00000699983.1:c.1327+3_1327+6del
ENST00000699984.1:c.1327+3_1327+6del
ENST00000320574.10:c.1473+3_1473+6del MANE Select ENSP00000322570.5:n.1473+3_1473+6del
ENST00000672742.1:c.*975+3_*975+6del ENSP00000500279.1:n.*975+3_*975+6del
ENST00000320574.9:c.1473+3_1473+6del ENSP00000322570.5:n.1473+3_1473+6del
ENST00000535270.5:c.1392+3_1392+6del ENSP00000445753.1:n.1392+3_1392+6del
ENST00000535934.2:n.1348+3_1348+6del
ENST00000537064.5:c.*520+3_*520+6del ENSP00000442578.1:n.*520+3_*520+6del
ENST00000539215.5:n.181+3_181+6del
ENST00000545015.1:n.70+3_70+6del
NM_006231.3:c.1473+3_1473+6del , LRG_789t1:c.1473+3_1473+6del NP_006222.2:n.1473+3_1473+6del
XM_011534795.1:c.1473+3_1473+6del XP_011533097.1:n.1473+3_1473+6del
XM_011534796.1:c.1344+3_1344+6del XP_011533098.1:n.1344+3_1344+6del
XM_011534797.1:c.552+3_552+6del XP_011533099.1:n.552+3_552+6del
XM_011534798.1:c.135+3_135+6del XP_011533100.1:n.135+3_135+6del
XM_011534799.1:c.1473+3_1473+6del XP_011533101.1:n.1473+3_1473+6del
XM_011534800.1:c.1473+3_1473+6del XP_011533102.1:n.1473+3_1473+6del
XM_011534801.1:c.1473+3_1473+6del XP_011533103.1:n.1473+3_1473+6del
XR_941395.1:n.1682+3_1682+6del
XM_011534795.3:c.1473+3_1473+6del XP_011533097.1:n.1473+3_1473+6del
XM_011534797.3:c.552+3_552+6del XP_011533099.1:n.552+3_552+6del
XM_011534799.2:c.1473+3_1473+6del XP_011533101.1:n.1473+3_1473+6del
XR_002957338.1:n.1677+3_1677+6del
XR_002957339.1:n.1677+3_1677+6del
XR_941395.2:n.1677+3_1677+6del
NM_006231.4:c.1473+3_1473+6del MANE Select NP_006222.2:n.1473+3_1473+6del