Canonical Allele Identifier: CA2073001661
Gene: POLE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.132673257_132673258delinsCA , CM000674.2:g.132673257_132673258delinsCA GRCh38
NC_000012.11:g.133249843_133249844delinsCA , CM000674.1:g.133249843_133249844delinsCA GRCh37
NC_000012.10:g.131759916_131759917delinsCA NCBI36
NG_033840.1:g.19267_19268delinsTG , LRG_789:g.19267_19268delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000539215.6:c.87_88delinsTG
ENST00000545015.2:n.1406_1407delinsTG
ENST00000699982.1:c.1233_1234delinsTG
ENST00000699983.1:c.1233_1234delinsTG
ENST00000699984.1:c.1233_1234delinsTG
ENST00000320574.10:c.1379_1380delinsTG MANE Select ENSP00000322570.5:p.Val460=
ENST00000672742.1:c.*881_*882delinsTG ENSP00000500279.1:n.*881_*882delinsTG
ENST00000320574.9:c.1379_1380delinsTG ENSP00000322570.5:p.Val460=
ENST00000535270.5:c.1298_1299delinsTG ENSP00000445753.1:p.Val433=
ENST00000535934.2:n.1254_1255delinsTG
ENST00000537064.5:c.*426_*427delinsTG ENSP00000442578.1:n.*426_*427delinsTG
ENST00000539215.5:n.87_88delinsTG
NM_006231.3:c.1379_1380delinsTG , LRG_789t1:c.1379_1380delinsTG NP_006222.2:p.Val460=
XM_011534795.1:c.1379_1380delinsTG XP_011533097.1:p.Val460=
XM_011534796.1:c.1250_1251delinsTG XP_011533098.1:p.Val417=
XM_011534797.1:c.458_459delinsTG XP_011533099.1:p.Val153=
XM_011534798.1:c.41_42delinsTG XP_011533100.1:p.Val14=
XM_011534799.1:c.1379_1380delinsTG XP_011533101.1:p.Val460=
XM_011534800.1:c.1379_1380delinsTG XP_011533102.1:p.Val460=
XM_011534801.1:c.1379_1380delinsTG XP_011533103.1:p.Val460=
XR_941395.1:n.1588_1589delinsTG
XM_011534795.3:c.1379_1380delinsTG XP_011533097.1:p.Val460=
XM_011534797.3:c.458_459delinsTG XP_011533099.1:p.Val153=
XM_011534799.2:c.1379_1380delinsTG XP_011533101.1:p.Val460=
XR_002957338.1:n.1583_1584delinsTG
XR_002957339.1:n.1583_1584delinsTG
XR_941395.2:n.1583_1584delinsTG
NM_006231.4:c.1379_1380delinsTG MANE Select NP_006222.2:p.Val460=