Canonical Allele Identifier: CA2697551618

Gene: POLE

Linked Data

• ClinVar Variation Id: 2730725
• ClinVar RCV Id: RCV003579810

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132676599del , CM000674.2:g.132676599del	GRCh38
NC_000012.11:g.133253185del , CM000674.1:g.133253185del	GRCh37
NC_000012.10:g.131763258del	NCBI36
NG_033840.1:g.15927del , LRG_789:g.15927del

Transcript Alleles

HGVS	Amino-acid change
ENST00000545015.2:n.884del
ENST00000699982.1:c.703del
ENST00000699983.1:c.703del
ENST00000699984.1:c.703del
ENST00000320574.10:c.857del MANE Select	ENSP00000322570.5:p.Pro286LeufsTer9
ENST00000672742.1:c.*351del	ENSP00000500279.1:n.*351del
ENST00000320574.9:c.857del	ENSP00000322570.5:p.Pro286LeufsTer9
ENST00000535270.5:c.776del	ENSP00000445753.1:p.Pro259LeufsTer9
ENST00000537064.5:c.857del	ENSP00000442578.1:p.Pro286LeufsTer9
NM_006231.3:c.857del , LRG_789t1:c.857del	NP_006222.2:p.Pro286LeufsTer9
XM_011534795.1:c.857del	XP_011533097.1:p.Pro286LeufsTer9
XM_011534796.1:c.728del	XP_011533098.1:p.Pro243LeufsTer9
XM_011534797.1:c.-45del	XP_011533099.1:n.-45del
XM_011534799.1:c.857del	XP_011533101.1:p.Pro286LeufsTer9
XM_011534800.1:c.857del	XP_011533102.1:p.Pro286LeufsTer9
XM_011534801.1:c.857del	XP_011533103.1:p.Pro286LeufsTer9
XR_941395.1:n.1066del
XM_011534795.3:c.857del	XP_011533097.1:p.Pro286LeufsTer9
XM_011534797.3:c.-45del	XP_011533099.1:n.-45del
XM_011534799.2:c.857del	XP_011533101.1:p.Pro286LeufsTer9
XR_002957338.1:n.1061del
XR_002957339.1:n.1061del
XR_941395.2:n.1061del
NM_006231.4:c.857del MANE Select	NP_006222.2:p.Pro286LeufsTer9