Canonical Allele Identifier: CA2073000986
Gene: POLE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.132672106_132672107delinsTC , CM000674.2:g.132672106_132672107delinsTC GRCh38
NC_000012.11:g.133248692_133248693delinsTC , CM000674.1:g.133248692_133248693delinsTC GRCh37
NC_000012.10:g.131758765_131758766delinsTC NCBI36
NG_033840.1:g.20418_20419delinsGA , LRG_789:g.20418_20419delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000539215.6:c.549+108_549+109delinsGA
ENST00000699982.1:c.1648+108_1648+109delinsGA
ENST00000699983.1:c.1648+108_1648+109delinsGA
ENST00000699984.1:c.1648+108_1648+109delinsGA
ENST00000320574.10:c.1794+108_1794+109delinsGA MANE Select ENSP00000322570.5:n.1794+108_1794+109delinsGA
ENST00000672742.1:c.*1296+108_*1296+109delinsGA ENSP00000500279.1:n.*1296+108_*1296+109delinsGA
ENST00000320574.9:c.1794+108_1794+109delinsGA ENSP00000322570.5:n.1794+108_1794+109delinsGA
ENST00000535270.5:c.1713+108_1713+109delinsGA ENSP00000445753.1:n.1713+108_1713+109delinsGA
ENST00000537064.5:c.*841+108_*841+109delinsGA ENSP00000442578.1:n.*841+108_*841+109delinsGA
NM_006231.3:c.1794+108_1794+109delinsGA , LRG_789t1:c.1794+108_1794+109delinsGA NP_006222.2:n.1794+108_1794+109delinsGA
XM_011534795.1:c.1794+108_1794+109delinsGA XP_011533097.1:n.1794+108_1794+109delinsGA
XM_011534796.1:c.1665+108_1665+109delinsGA XP_011533098.1:n.1665+108_1665+109delinsGA
XM_011534797.1:c.873+108_873+109delinsGA XP_011533099.1:n.873+108_873+109delinsGA
XM_011534798.1:c.456+108_456+109delinsGA XP_011533100.1:n.456+108_456+109delinsGA
XM_011534799.1:c.1794+108_1794+109delinsGA XP_011533101.1:n.1794+108_1794+109delinsGA
XM_011534800.1:c.1794+108_1794+109delinsGA XP_011533102.1:n.1794+108_1794+109delinsGA
XM_011534801.1:c.1794+108_1794+109delinsGA XP_011533103.1:n.1794+108_1794+109delinsGA
XR_941395.1:n.2003+108_2003+109delinsGA
XM_011534795.3:c.1794+108_1794+109delinsGA XP_011533097.1:n.1794+108_1794+109delinsGA
XM_011534797.3:c.873+108_873+109delinsGA XP_011533099.1:n.873+108_873+109delinsGA
XM_011534799.2:c.1794+108_1794+109delinsGA XP_011533101.1:n.1794+108_1794+109delinsGA
XR_002957338.1:n.1998+108_1998+109delinsGA
XR_002957339.1:n.1998+108_1998+109delinsGA
XR_941395.2:n.1998+108_1998+109delinsGA
NM_006231.4:c.1794+108_1794+109delinsGA MANE Select NP_006222.2:n.1794+108_1794+109delinsGA