Canonical Allele Identifier: CA658821753

Gene: POLE

Linked Data

• ClinVar Variation Id: 545855
• ClinVar RCV Id: RCV000657433
• dbSNP Id: rs1555229421
• MyVariant Identifiers: chr12:g.133253190_133253191del (hg19) ; chr12:g.132676604_132676605del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132676604_132676605del , CM000674.2:g.132676604_132676605del	GRCh38
NC_000012.11:g.133253190_133253191del , CM000674.1:g.133253190_133253191del	GRCh37
NC_000012.10:g.131763263_131763264del	NCBI36
NG_033840.1:g.15920_15921del , LRG_789:g.15920_15921del

Transcript Alleles

HGVS	Amino-acid change
ENST00000545015.2:n.877_878del
ENST00000699982.1:c.696_697del
ENST00000699983.1:c.696_697del
ENST00000699984.1:c.696_697del
ENST00000320574.10:c.850_851del MANE Select	ENSP00000322570.5:p.Lys284ValfsTer3
ENST00000672742.1:c.*344_*345del	ENSP00000500279.1:n.*344_*345del
ENST00000320574.9:c.850_851del	ENSP00000322570.5:p.Lys284ValfsTer3
ENST00000535270.5:c.769_770del	ENSP00000445753.1:p.Lys257ValfsTer3
ENST00000537064.5:c.850_851del	ENSP00000442578.1:p.Lys284ValfsTer3
NM_006231.3:c.850_851del , LRG_789t1:c.850_851del	NP_006222.2:p.Lys284ValfsTer3
XM_011534795.1:c.850_851del	XP_011533097.1:p.Lys284ValfsTer3
XM_011534796.1:c.721_722del	XP_011533098.1:p.Lys241ValfsTer3
XM_011534797.1:c.-52_-51del	XP_011533099.1:n.-52_-51del
XM_011534799.1:c.850_851del	XP_011533101.1:p.Lys284ValfsTer3
XM_011534800.1:c.850_851del	XP_011533102.1:p.Lys284ValfsTer3
XM_011534801.1:c.850_851del	XP_011533103.1:p.Lys284ValfsTer3
XR_941395.1:n.1059_1060del
XM_011534795.3:c.850_851del	XP_011533097.1:p.Lys284ValfsTer3
XM_011534797.3:c.-52_-51del	XP_011533099.1:n.-52_-51del
XM_011534799.2:c.850_851del	XP_011533101.1:p.Lys284ValfsTer3
XR_002957338.1:n.1054_1055del
XR_002957339.1:n.1054_1055del
XR_941395.2:n.1054_1055del
NM_006231.4:c.850_851del MANE Select	NP_006222.2:p.Lys284ValfsTer3