Canonical Allele Identifier: CA891844347

Gene: POLE

Linked Data

• ClinVar Variation Id: 580524
• ClinVar RCV Id: RCV003540815
• dbSNP Id: rs1565973030
• MyVariant Identifiers: chr12:g.133250161_133250171del (hg19) ; chr12:g.132673575_132673585del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132673576_132673586del , CM000674.2:g.132673576_132673586del	GRCh38
NC_000012.11:g.133250162_133250172del , CM000674.1:g.133250162_133250172del	GRCh37
NC_000012.10:g.131760235_131760245del	NCBI36
NG_033840.1:g.18940_18950del , LRG_789:g.18940_18950del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.57_67del
ENST00000545015.2:n.1376_1386del
ENST00000699982.1:c.1203_1213del
ENST00000699983.1:c.1203_1213del
ENST00000699984.1:c.1203_1213del
ENST00000320574.10:c.1349_1359del MANE Select	ENSP00000322570.5:p.Glu450AspfsTer?
ENST00000672742.1:c.*851_*861del	ENSP00000500279.1:n.*851_*861del
ENST00000320574.9:c.1349_1359del	ENSP00000322570.5:p.Glu450AspfsTer?
ENST00000535270.5:c.1268_1278del	ENSP00000445753.1:p.Glu423AspfsTer?
ENST00000535934.2:n.1224_1234del
ENST00000537064.5:c.*396_*406del	ENSP00000442578.1:n.*396_*406del
ENST00000539215.5:n.57_67del
NM_006231.3:c.1349_1359del , LRG_789t1:c.1349_1359del	NP_006222.2:p.Glu450AspfsTer?
XM_011534795.1:c.1349_1359del	XP_011533097.1:p.Glu450AspfsTer?
XM_011534796.1:c.1220_1230del	XP_011533098.1:p.Glu407AspfsTer?
XM_011534797.1:c.428_438del	XP_011533099.1:p.Glu143AspfsTer?
XM_011534798.1:c.-61_-51del	XP_011533100.1:n.-61_-51del
XM_011534799.1:c.1349_1359del	XP_011533101.1:p.Glu450AspfsTer?
XM_011534800.1:c.1349_1359del	XP_011533102.1:p.Glu450AspfsTer?
XM_011534801.1:c.1349_1359del	XP_011533103.1:p.Glu450AspfsTer?
XR_941395.1:n.1558_1568del
XM_011534795.3:c.1349_1359del	XP_011533097.1:p.Glu450AspfsTer?
XM_011534797.3:c.428_438del	XP_011533099.1:p.Glu143AspfsTer?
XM_011534799.2:c.1349_1359del	XP_011533101.1:p.Glu450AspfsTer?
XR_002957338.1:n.1553_1563del
XR_002957339.1:n.1553_1563del
XR_941395.2:n.1553_1563del
NM_006231.4:c.1349_1359del MANE Select	NP_006222.2:p.Glu450AspfsTer?