Canonical Allele Identifier: CA2073001606

Gene: POLE

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132673168_132673170delinsTCG , CM000674.2:g.132673168_132673170delinsTCG	GRCh38
NC_000012.11:g.133249754_133249756delinsTCG , CM000674.1:g.133249754_133249756delinsTCG	GRCh37
NC_000012.10:g.131759827_131759829delinsTCG	NCBI36
NG_033840.1:g.19355_19357delinsCGA , LRG_789:g.19355_19357delinsCGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.175_177delinsCGA
ENST00000545015.2:n.1494_1496delinsCGA
ENST00000699982.1:c.1321_1323delinsCGA
ENST00000699983.1:c.1321_1323delinsCGA
ENST00000699984.1:c.1321_1323delinsCGA
ENST00000320574.10:c.1467_1469delinsCGA MANE Select	ENSP00000322570.5:p.Pro489=
ENST00000672742.1:c.*969_*971delinsCGA	ENSP00000500279.1:n.*969_*971delinsCGA
ENST00000320574.9:c.1467_1469delinsCGA	ENSP00000322570.5:p.Pro489=
ENST00000535270.5:c.1386_1388delinsCGA	ENSP00000445753.1:p.Pro462=
ENST00000535934.2:n.1342_1344delinsCGA
ENST00000537064.5:c.*514_*516delinsCGA	ENSP00000442578.1:n.*514_*516delinsCGA
ENST00000539215.5:n.175_177delinsCGA
ENST00000545015.1:n.64_66delinsCGA
NM_006231.3:c.1467_1469delinsCGA , LRG_789t1:c.1467_1469delinsCGA	NP_006222.2:p.Pro489=
XM_011534795.1:c.1467_1469delinsCGA	XP_011533097.1:p.Pro489=
XM_011534796.1:c.1338_1340delinsCGA	XP_011533098.1:p.Pro446=
XM_011534797.1:c.546_548delinsCGA	XP_011533099.1:p.Pro182=
XM_011534798.1:c.129_131delinsCGA	XP_011533100.1:p.Pro43=
XM_011534799.1:c.1467_1469delinsCGA	XP_011533101.1:p.Pro489=
XM_011534800.1:c.1467_1469delinsCGA	XP_011533102.1:p.Pro489=
XM_011534801.1:c.1467_1469delinsCGA	XP_011533103.1:p.Pro489=
XR_941395.1:n.1676_1678delinsCGA
XM_011534795.3:c.1467_1469delinsCGA	XP_011533097.1:p.Pro489=
XM_011534797.3:c.546_548delinsCGA	XP_011533099.1:p.Pro182=
XM_011534799.2:c.1467_1469delinsCGA	XP_011533101.1:p.Pro489=
XR_002957338.1:n.1671_1673delinsCGA
XR_002957339.1:n.1671_1673delinsCGA
XR_941395.2:n.1671_1673delinsCGA
NM_006231.4:c.1467_1469delinsCGA MANE Select	NP_006222.2:p.Pro489=