Canonical Allele Identifier: CA2573148327

Gene: POLE

Linked Data

• ClinVar Variation Id: 1464616
• ClinVar RCV Id: RCV003657552
• dbSNP Id: rs2135997131

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132673277del , CM000674.2:g.132673277del	GRCh38
NC_000012.11:g.133249863del , CM000674.1:g.133249863del	GRCh37
NC_000012.10:g.131759936del	NCBI36
NG_033840.1:g.19248del , LRG_789:g.19248del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.68del
ENST00000545015.2:n.1387del
ENST00000699982.1:c.1214del
ENST00000699983.1:c.1214del
ENST00000699984.1:c.1214del
ENST00000320574.10:c.1360del MANE Select	ENSP00000322570.5:p.Thr454LeufsTer18
ENST00000672742.1:c.*862del	ENSP00000500279.1:n.*862del
ENST00000320574.9:c.1360del	ENSP00000322570.5:p.Thr454LeufsTer18
ENST00000535270.5:c.1279del	ENSP00000445753.1:p.Thr427LeufsTer18
ENST00000535934.2:n.1235del
ENST00000537064.5:c.*407del	ENSP00000442578.1:n.*407del
ENST00000539215.5:n.68del
NM_006231.3:c.1360del , LRG_789t1:c.1360del	NP_006222.2:p.Thr454LeufsTer18
XM_011534795.1:c.1360del	XP_011533097.1:p.Thr454LeufsTer18
XM_011534796.1:c.1231del	XP_011533098.1:p.Thr411LeufsTer18
XM_011534797.1:c.439del	XP_011533099.1:p.Thr147LeufsTer18
XM_011534798.1:c.22del	XP_011533100.1:p.Thr8LeufsTer18
XM_011534799.1:c.1360del	XP_011533101.1:p.Thr454LeufsTer18
XM_011534800.1:c.1360del	XP_011533102.1:p.Thr454LeufsTer18
XM_011534801.1:c.1360del	XP_011533103.1:p.Thr454LeufsTer18
XR_941395.1:n.1569del
XM_011534795.3:c.1360del	XP_011533097.1:p.Thr454LeufsTer18
XM_011534797.3:c.439del	XP_011533099.1:p.Thr147LeufsTer18
XM_011534799.2:c.1360del	XP_011533101.1:p.Thr454LeufsTer18
XR_002957338.1:n.1564del
XR_002957339.1:n.1564del
XR_941395.2:n.1564del
NM_006231.4:c.1360del MANE Select	NP_006222.2:p.Thr454LeufsTer18