Canonical Allele Identifier: CA912973798

Gene: POLE

Linked Data

• ClinVar Variation Id: 858925
• ClinVar RCV Id: RCV002379591 ; RCV003656387
• dbSNP Id: rs2042972341
• MyVariant Identifiers: chr12:g.133249844del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132673258del , CM000674.2:g.132673258del	GRCh38
NC_000012.11:g.133249844del , CM000674.1:g.133249844del	GRCh37
NC_000012.10:g.131759917del	NCBI36
NG_033840.1:g.19267del , LRG_789:g.19267del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.87del
ENST00000545015.2:n.1406del
ENST00000699982.1:c.1233del
ENST00000699983.1:c.1233del
ENST00000699984.1:c.1233del
ENST00000320574.10:c.1379del MANE Select	ENSP00000322570.5:p.Val460GlyfsTer12
ENST00000672742.1:c.*881del	ENSP00000500279.1:n.*881del
ENST00000320574.9:c.1379del	ENSP00000322570.5:p.Val460GlyfsTer12
ENST00000535270.5:c.1298del	ENSP00000445753.1:p.Val433GlyfsTer12
ENST00000535934.2:n.1254del
ENST00000537064.5:c.*426del	ENSP00000442578.1:n.*426del
ENST00000539215.5:n.87del
NM_006231.3:c.1379del , LRG_789t1:c.1379del	NP_006222.2:p.Val460GlyfsTer12
XM_011534795.1:c.1379del	XP_011533097.1:p.Val460GlyfsTer12
XM_011534796.1:c.1250del	XP_011533098.1:p.Val417GlyfsTer12
XM_011534797.1:c.458del	XP_011533099.1:p.Val153GlyfsTer12
XM_011534798.1:c.41del	XP_011533100.1:p.Val14GlyfsTer12
XM_011534799.1:c.1379del	XP_011533101.1:p.Val460GlyfsTer12
XM_011534800.1:c.1379del	XP_011533102.1:p.Val460GlyfsTer12
XM_011534801.1:c.1379del	XP_011533103.1:p.Val460GlyfsTer12
XR_941395.1:n.1588del
XM_011534795.3:c.1379del	XP_011533097.1:p.Val460GlyfsTer12
XM_011534797.3:c.458del	XP_011533099.1:p.Val153GlyfsTer12
XM_011534799.2:c.1379del	XP_011533101.1:p.Val460GlyfsTer12
XR_002957338.1:n.1583del
XR_002957339.1:n.1583del
XR_941395.2:n.1583del
NM_006231.4:c.1379del MANE Select	NP_006222.2:p.Val460GlyfsTer12