Canonical Allele Identifier: CA2073001614

Gene: POLE

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132673178_132673179delinsTG , CM000674.2:g.132673178_132673179delinsTG	GRCh38
NC_000012.11:g.133249764_133249765delinsTG , CM000674.1:g.133249764_133249765delinsTG	GRCh37
NC_000012.10:g.131759837_131759838delinsTG	NCBI36
NG_033840.1:g.19346_19347delinsCA , LRG_789:g.19346_19347delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.166_167delinsCA
ENST00000545015.2:n.1485_1486delinsCA
ENST00000699982.1:c.1312_1313delinsCA
ENST00000699983.1:c.1312_1313delinsCA
ENST00000699984.1:c.1312_1313delinsCA
ENST00000320574.10:c.1458_1459delinsCA MANE Select	ENSP00000322570.5:p.Pro486=
ENST00000672742.1:c.*960_*961delinsCA	ENSP00000500279.1:n.*960_*961delinsCA
ENST00000320574.9:c.1458_1459delinsCA	ENSP00000322570.5:p.Pro486=
ENST00000535270.5:c.1377_1378delinsCA	ENSP00000445753.1:p.Pro459=
ENST00000535934.2:n.1333_1334delinsCA
ENST00000537064.5:c.*505_*506delinsCA	ENSP00000442578.1:n.*505_*506delinsCA
ENST00000539215.5:n.166_167delinsCA
ENST00000545015.1:n.55_56delinsCA
NM_006231.3:c.1458_1459delinsCA , LRG_789t1:c.1458_1459delinsCA	NP_006222.2:p.Pro486=
XM_011534795.1:c.1458_1459delinsCA	XP_011533097.1:p.Pro486=
XM_011534796.1:c.1329_1330delinsCA	XP_011533098.1:p.Pro443=
XM_011534797.1:c.537_538delinsCA	XP_011533099.1:p.Pro179=
XM_011534798.1:c.120_121delinsCA	XP_011533100.1:p.Pro40=
XM_011534799.1:c.1458_1459delinsCA	XP_011533101.1:p.Pro486=
XM_011534800.1:c.1458_1459delinsCA	XP_011533102.1:p.Pro486=
XM_011534801.1:c.1458_1459delinsCA	XP_011533103.1:p.Pro486=
XR_941395.1:n.1667_1668delinsCA
XM_011534795.3:c.1458_1459delinsCA	XP_011533097.1:p.Pro486=
XM_011534797.3:c.537_538delinsCA	XP_011533099.1:p.Pro179=
XM_011534799.2:c.1458_1459delinsCA	XP_011533101.1:p.Pro486=
XR_002957338.1:n.1662_1663delinsCA
XR_002957339.1:n.1662_1663delinsCA
XR_941395.2:n.1662_1663delinsCA
NM_006231.4:c.1458_1459delinsCA MANE Select	NP_006222.2:p.Pro486=