Canonical Allele Identifier: CA2073001116

Gene: POLE

Linked Data

• ClinVar Variation Id: 1014371
• ClinVar RCV Id: RCV003656840
• dbSNP Id: rs2042947274

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132672315_132672329dup , CM000674.2:g.132672315_132672329dup	GRCh38
NC_000012.11:g.133248901_133248915dup , CM000674.1:g.133248901_133248915dup	GRCh37
NC_000012.10:g.131758974_131758988dup	NCBI36
NG_033840.1:g.20196_20210dup , LRG_789:g.20196_20210dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.442-7_449dup
ENST00000699982.1:c.1541-7_1548dup
ENST00000699983.1:c.1541-7_1548dup
ENST00000699984.1:c.1541-7_1548dup
ENST00000320574.10:c.1687-7_1694dup
ENST00000672742.1:c.*1189-7_*1196dup
ENST00000320574.9:c.1687-7_1694dup
ENST00000535270.5:c.1606-7_1613dup
ENST00000537064.5:c.*734-7_*741dup
ENST00000539215.5:n.442-7_449dup
NM_006231.3:c.1687-7_1694dup , LRG_789t1:c.1687-7_1694dup
XM_011534795.1:c.1687-7_1694dup
XM_011534796.1:c.1558-7_1565dup
XM_011534797.1:c.766-7_773dup
XM_011534798.1:c.349-7_356dup
XM_011534799.1:c.1687-7_1694dup
XM_011534800.1:c.1687-7_1694dup
XM_011534801.1:c.1687-7_1694dup
XR_941395.1:n.1896-7_1903dup
XM_011534795.3:c.1687-7_1694dup
XM_011534797.3:c.766-7_773dup
XM_011534799.2:c.1687-7_1694dup
XR_002957338.1:n.1891-7_1898dup
XR_002957339.1:n.1891-7_1898dup
XR_941395.2:n.1891-7_1898dup
NM_006231.4:c.1687-7_1694dup