Canonical Allele Identifier: CA2622061209

Gene: POLE

Linked Data

• gnomAD v4: 12-132676605-TGAGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132676607_132676610del , CM000674.2:g.132676607_132676610del	GRCh38
NC_000012.11:g.133253193_133253196del , CM000674.1:g.133253193_133253196del	GRCh37
NC_000012.10:g.131763266_131763269del	NCBI36
NG_033840.1:g.15916_15919del , LRG_789:g.15916_15919del

Transcript Alleles

HGVS	Amino-acid change
ENST00000545015.2:n.873_876del
ENST00000699982.1:c.692_695del
ENST00000699983.1:c.692_695del
ENST00000699984.1:c.692_695del
ENST00000320574.10:c.846_849del MANE Select	ENSP00000322570.5:p.Leu283SerfsTer11
ENST00000672742.1:c.*340_*343del	ENSP00000500279.1:n.*340_*343del
ENST00000320574.9:c.846_849del	ENSP00000322570.5:p.Leu283SerfsTer11
ENST00000535270.5:c.765_768del	ENSP00000445753.1:p.Leu256SerfsTer11
ENST00000537064.5:c.846_849del	ENSP00000442578.1:p.Leu283SerfsTer11
NM_006231.3:c.846_849del , LRG_789t1:c.846_849del	NP_006222.2:p.Leu283SerfsTer11
XM_011534795.1:c.846_849del	XP_011533097.1:p.Leu283SerfsTer11
XM_011534796.1:c.717_720del	XP_011533098.1:p.Leu240SerfsTer11
XM_011534797.1:c.-56_-53del	XP_011533099.1:n.-56_-53del
XM_011534799.1:c.846_849del	XP_011533101.1:p.Leu283SerfsTer11
XM_011534800.1:c.846_849del	XP_011533102.1:p.Leu283SerfsTer11
XM_011534801.1:c.846_849del	XP_011533103.1:p.Leu283SerfsTer11
XR_941395.1:n.1055_1058del
XM_011534795.3:c.846_849del	XP_011533097.1:p.Leu283SerfsTer11
XM_011534797.3:c.-56_-53del	XP_011533099.1:n.-56_-53del
XM_011534799.2:c.846_849del	XP_011533101.1:p.Leu283SerfsTer11
XR_002957338.1:n.1050_1053del
XR_002957339.1:n.1050_1053del
XR_941395.2:n.1050_1053del
NM_006231.4:c.846_849del MANE Select	NP_006222.2:p.Leu283SerfsTer11