Canonical Allele Identifier: CA2073001670

Gene: POLE

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132673272_132673274delinsCAG , CM000674.2:g.132673272_132673274delinsCAG	GRCh38
NC_000012.11:g.133249858_133249860delinsCAG , CM000674.1:g.133249858_133249860delinsCAG	GRCh37
NC_000012.10:g.131759931_131759933delinsCAG	NCBI36
NG_033840.1:g.19251_19253delinsCTG , LRG_789:g.19251_19253delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.71_73delinsCTG
ENST00000545015.2:n.1390_1392delinsCTG
ENST00000699982.1:c.1217_1219delinsCTG
ENST00000699983.1:c.1217_1219delinsCTG
ENST00000699984.1:c.1217_1219delinsCTG
ENST00000320574.10:c.1363_1365delinsCTG MANE Select	ENSP00000322570.5:p.Leu455=
ENST00000672742.1:c.*865_*867delinsCTG	ENSP00000500279.1:n.*865_*867delinsCTG
ENST00000320574.9:c.1363_1365delinsCTG	ENSP00000322570.5:p.Leu455=
ENST00000535270.5:c.1282_1284delinsCTG	ENSP00000445753.1:p.Leu428=
ENST00000535934.2:n.1238_1240delinsCTG
ENST00000537064.5:c.*410_*412delinsCTG	ENSP00000442578.1:n.*410_*412delinsCTG
ENST00000539215.5:n.71_73delinsCTG
NM_006231.3:c.1363_1365delinsCTG , LRG_789t1:c.1363_1365delinsCTG	NP_006222.2:p.Leu455=
XM_011534795.1:c.1363_1365delinsCTG	XP_011533097.1:p.Leu455=
XM_011534796.1:c.1234_1236delinsCTG	XP_011533098.1:p.Leu412=
XM_011534797.1:c.442_444delinsCTG	XP_011533099.1:p.Leu148=
XM_011534798.1:c.25_27delinsCTG	XP_011533100.1:p.Leu9=
XM_011534799.1:c.1363_1365delinsCTG	XP_011533101.1:p.Leu455=
XM_011534800.1:c.1363_1365delinsCTG	XP_011533102.1:p.Leu455=
XM_011534801.1:c.1363_1365delinsCTG	XP_011533103.1:p.Leu455=
XR_941395.1:n.1572_1574delinsCTG
XM_011534795.3:c.1363_1365delinsCTG	XP_011533097.1:p.Leu455=
XM_011534797.3:c.442_444delinsCTG	XP_011533099.1:p.Leu148=
XM_011534799.2:c.1363_1365delinsCTG	XP_011533101.1:p.Leu455=
XR_002957338.1:n.1567_1569delinsCTG
XR_002957339.1:n.1567_1569delinsCTG
XR_941395.2:n.1567_1569delinsCTG
NM_006231.4:c.1363_1365delinsCTG MANE Select	NP_006222.2:p.Leu455=