Canonical Allele Identifier: CA2739277380

Gene: POLE

Linked Data

• ClinVar Variation Id: 2816361
• ClinVar RCV Id: RCV003685846

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132672237del , CM000674.2:g.132672237del	GRCh38
NC_000012.11:g.133248823del , CM000674.1:g.133248823del	GRCh37
NC_000012.10:g.131758896del	NCBI36
NG_033840.1:g.20288del , LRG_789:g.20288del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.527del
ENST00000699982.1:c.1626del
ENST00000699983.1:c.1626del
ENST00000699984.1:c.1626del
ENST00000320574.10:c.1772del MANE Select	ENSP00000322570.5:p.Glu591GlyfsTer20
ENST00000672742.1:c.*1274del	ENSP00000500279.1:n.*1274del
ENST00000320574.9:c.1772del	ENSP00000322570.5:p.Glu591GlyfsTer20
ENST00000535270.5:c.1691del	ENSP00000445753.1:p.Glu564GlyfsTer20
ENST00000537064.5:c.*819del	ENSP00000442578.1:n.*819del
NM_006231.3:c.1772del , LRG_789t1:c.1772del	NP_006222.2:p.Glu591GlyfsTer20
XM_011534795.1:c.1772del	XP_011533097.1:p.Glu591GlyfsTer20
XM_011534796.1:c.1643del	XP_011533098.1:p.Glu548GlyfsTer20
XM_011534797.1:c.851del	XP_011533099.1:p.Glu284GlyfsTer20
XM_011534798.1:c.434del	XP_011533100.1:p.Glu145GlyfsTer20
XM_011534799.1:c.1772del	XP_011533101.1:p.Glu591GlyfsTer20
XM_011534800.1:c.1772del	XP_011533102.1:p.Glu591GlyfsTer20
XM_011534801.1:c.1772del	XP_011533103.1:p.Glu591GlyfsTer20
XR_941395.1:n.1981del
XM_011534795.3:c.1772del	XP_011533097.1:p.Glu591GlyfsTer20
XM_011534797.3:c.851del	XP_011533099.1:p.Glu284GlyfsTer20
XM_011534799.2:c.1772del	XP_011533101.1:p.Glu591GlyfsTer20
XR_002957338.1:n.1976del
XR_002957339.1:n.1976del
XR_941395.2:n.1976del
NM_006231.4:c.1772del MANE Select	NP_006222.2:p.Glu591GlyfsTer20