Canonical Allele Identifier: CA2073001084

Gene: POLE

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132672264_132672271delinsAGGGCGTG , CM000674.2:g.132672264_132672271delinsAGGGCGTG	GRCh38
NC_000012.11:g.133248850_133248857delinsAGGGCGTG , CM000674.1:g.133248850_133248857delinsAGGGCGTG	GRCh37
NC_000012.10:g.131758923_131758930delinsAGGGCGTG	NCBI36
NG_033840.1:g.20254_20261delinsCACGCCCT , LRG_789:g.20254_20261delinsCACGCCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.493_500delinsCACGCCCT
ENST00000699982.1:c.1592_1599delinsCACGCCCT
ENST00000699983.1:c.1592_1599delinsCACGCCCT
ENST00000699984.1:c.1592_1599delinsCACGCCCT
ENST00000320574.10:c.1738_1745delinsCACGCCCT MANE Select	ENSP00000322570.5:p.His580=
ENST00000672742.1:c.*1240_*1247delinsCACGCCCT	ENSP00000500279.1:n.*1240_*1247delinsCACGCCCT
ENST00000320574.9:c.1738_1745delinsCACGCCCT	ENSP00000322570.5:p.His580=
ENST00000535270.5:c.1657_1664delinsCACGCCCT	ENSP00000445753.1:p.His553=
ENST00000537064.5:c.*785_*792delinsCACGCCCT	ENSP00000442578.1:n.*785_*792delinsCACGCCCT
NM_006231.3:c.1738_1745delinsCACGCCCT , LRG_789t1:c.1738_1745delinsCACGCCCT	NP_006222.2:p.His580=
XM_011534795.1:c.1738_1745delinsCACGCCCT	XP_011533097.1:p.His580=
XM_011534796.1:c.1609_1616delinsCACGCCCT	XP_011533098.1:p.His537=
XM_011534797.1:c.817_824delinsCACGCCCT	XP_011533099.1:p.His273=
XM_011534798.1:c.400_407delinsCACGCCCT	XP_011533100.1:p.His134=
XM_011534799.1:c.1738_1745delinsCACGCCCT	XP_011533101.1:p.His580=
XM_011534800.1:c.1738_1745delinsCACGCCCT	XP_011533102.1:p.His580=
XM_011534801.1:c.1738_1745delinsCACGCCCT	XP_011533103.1:p.His580=
XR_941395.1:n.1947_1954delinsCACGCCCT
XM_011534795.3:c.1738_1745delinsCACGCCCT	XP_011533097.1:p.His580=
XM_011534797.3:c.817_824delinsCACGCCCT	XP_011533099.1:p.His273=
XM_011534799.2:c.1738_1745delinsCACGCCCT	XP_011533101.1:p.His580=
XR_002957338.1:n.1942_1949delinsCACGCCCT
XR_002957339.1:n.1942_1949delinsCACGCCCT
XR_941395.2:n.1942_1949delinsCACGCCCT
NM_006231.4:c.1738_1745delinsCACGCCCT MANE Select	NP_006222.2:p.His580=