Canonical Allele Identifier: CA2499221543

Gene: POLE

Linked Data

• ClinVar Variation Id: 1058407
• ClinVar RCV Id: RCV003771144
• dbSNP Id: rs2135990149

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132672222_132672223del , CM000674.2:g.132672222_132672223del	GRCh38
NC_000012.11:g.133248808_133248809del , CM000674.1:g.133248808_133248809del	GRCh37
NC_000012.10:g.131758881_131758882del	NCBI36
NG_033840.1:g.20303_20304del , LRG_789:g.20303_20304del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.542_543del
ENST00000699982.1:c.1641_1642del
ENST00000699983.1:c.1641_1642del
ENST00000699984.1:c.1641_1642del
ENST00000320574.10:c.1787_1788del MANE Select	ENSP00000322570.5:p.Phe596Ter
ENST00000672742.1:c.*1289_*1290del	ENSP00000500279.1:n.*1289_*1290del
ENST00000320574.9:c.1787_1788del	ENSP00000322570.5:p.Phe596Ter
ENST00000535270.5:c.1706_1707del	ENSP00000445753.1:p.Phe569Ter
ENST00000537064.5:c.*834_*835del	ENSP00000442578.1:n.*834_*835del
NM_006231.3:c.1787_1788del , LRG_789t1:c.1787_1788del	NP_006222.2:p.Phe596Ter
XM_011534795.1:c.1787_1788del	XP_011533097.1:p.Phe596Ter
XM_011534796.1:c.1658_1659del	XP_011533098.1:p.Phe553Ter
XM_011534797.1:c.866_867del	XP_011533099.1:p.Phe289Ter
XM_011534798.1:c.449_450del	XP_011533100.1:p.Phe150Ter
XM_011534799.1:c.1787_1788del	XP_011533101.1:p.Phe596Ter
XM_011534800.1:c.1787_1788del	XP_011533102.1:p.Phe596Ter
XM_011534801.1:c.1787_1788del	XP_011533103.1:p.Phe596Ter
XR_941395.1:n.1996_1997del
XM_011534795.3:c.1787_1788del	XP_011533097.1:p.Phe596Ter
XM_011534797.3:c.866_867del	XP_011533099.1:p.Phe289Ter
XM_011534799.2:c.1787_1788del	XP_011533101.1:p.Phe596Ter
XR_002957338.1:n.1991_1992del
XR_002957339.1:n.1991_1992del
XR_941395.2:n.1991_1992del
NM_006231.4:c.1787_1788del MANE Select	NP_006222.2:p.Phe596Ter