Canonical Allele Identifier: CA2073001576

Gene: POLE

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132673125_132673128delinsTGAG , CM000674.2:g.132673125_132673128delinsTGAG	GRCh38
NC_000012.11:g.133249711_133249714delinsTGAG , CM000674.1:g.133249711_133249714delinsTGAG	GRCh37
NC_000012.10:g.131759784_131759787delinsTGAG	NCBI36
NG_033840.1:g.19397_19400delinsCTCA , LRG_789:g.19397_19400delinsCTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.181+36_181+39delinsCTCA
ENST00000545015.2:n.1500+36_1500+39delinsCTCA
ENST00000699982.1:c.1327+36_1327+39delinsCTCA
ENST00000699983.1:c.1327+36_1327+39delinsCTCA
ENST00000699984.1:c.1327+36_1327+39delinsCTCA
ENST00000320574.10:c.1473+36_1473+39delinsCTCA MANE Select	ENSP00000322570.5:n.1473+36_1473+39delinsCTCA
ENST00000672742.1:c.*975+36_*975+39delinsCTCA	ENSP00000500279.1:n.*975+36_*975+39delinsCTCA
ENST00000320574.9:c.1473+36_1473+39delinsCTCA	ENSP00000322570.5:n.1473+36_1473+39delinsCTCA
ENST00000535270.5:c.1392+36_1392+39delinsCTCA	ENSP00000445753.1:n.1392+36_1392+39delinsCTCA
ENST00000535934.2:n.1348+36_1348+39delinsCTCA
ENST00000537064.5:c.*520+36_*520+39delinsCTCA	ENSP00000442578.1:n.*520+36_*520+39delinsCTCA
ENST00000539215.5:n.181+36_181+39delinsCTCA
ENST00000545015.1:n.70+36_70+39delinsCTCA
NM_006231.3:c.1473+36_1473+39delinsCTCA , LRG_789t1:c.1473+36_1473+39delinsCTCA	NP_006222.2:n.1473+36_1473+39delinsCTCA
XM_011534795.1:c.1473+36_1473+39delinsCTCA	XP_011533097.1:n.1473+36_1473+39delinsCTCA
XM_011534796.1:c.1344+36_1344+39delinsCTCA	XP_011533098.1:n.1344+36_1344+39delinsCTCA
XM_011534797.1:c.552+36_552+39delinsCTCA	XP_011533099.1:n.552+36_552+39delinsCTCA
XM_011534798.1:c.135+36_135+39delinsCTCA	XP_011533100.1:n.135+36_135+39delinsCTCA
XM_011534799.1:c.1473+36_1473+39delinsCTCA	XP_011533101.1:n.1473+36_1473+39delinsCTCA
XM_011534800.1:c.1473+36_1473+39delinsCTCA	XP_011533102.1:n.1473+36_1473+39delinsCTCA
XM_011534801.1:c.1473+36_1473+39delinsCTCA	XP_011533103.1:n.1473+36_1473+39delinsCTCA
XR_941395.1:n.1682+36_1682+39delinsCTCA
XM_011534795.3:c.1473+36_1473+39delinsCTCA	XP_011533097.1:n.1473+36_1473+39delinsCTCA
XM_011534797.3:c.552+36_552+39delinsCTCA	XP_011533099.1:n.552+36_552+39delinsCTCA
XM_011534799.2:c.1473+36_1473+39delinsCTCA	XP_011533101.1:n.1473+36_1473+39delinsCTCA
XR_002957338.1:n.1677+36_1677+39delinsCTCA
XR_002957339.1:n.1677+36_1677+39delinsCTCA
XR_941395.2:n.1677+36_1677+39delinsCTCA
NM_006231.4:c.1473+36_1473+39delinsCTCA MANE Select	NP_006222.2:n.1473+36_1473+39delinsCTCA