Canonical Allele Identifier: CA16619486

Gene: POLE

Linked Data

• ClinVar Variation Id: 422620
• ClinVar RCV Id: RCV000486663
• dbSNP Id: rs1064795897

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132687239_132687241delinsAAA , CM000674.2:g.132687239_132687241delinsAAA	GRCh38
NC_000012.11:g.133263825_133263827delinsAAA , CM000674.1:g.133263825_133263827delinsAAA	GRCh37
NC_000012.10:g.131773898_131773900delinsAAA	NCBI36
NG_033840.1:g.5284_5286delinsTTT , LRG_789:g.5284_5286delinsTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545015.2:n.89+13_89+15delinsTTT
ENST00000699985.1:n.123+13_123+15delinsTTT
ENST00000320574.10:c.62+13_62+15delinsTTT MANE Select	ENSP00000322570.5:n.62+13_62+15delinsTTT
ENST00000672742.1:c.62+13_62+15delinsTTT	ENSP00000500279.1:n.62+13_62+15delinsTTT
ENST00000320574.9:c.62+13_62+15delinsTTT	ENSP00000322570.5:n.62+13_62+15delinsTTT
ENST00000535270.5:c.62+13_62+15delinsTTT	ENSP00000445753.1:n.62+13_62+15delinsTTT
ENST00000537064.5:c.62+13_62+15delinsTTT	ENSP00000442578.1:n.62+13_62+15delinsTTT
ENST00000539357.1:n.112+13_112+15delinsTTT
NM_006231.3:c.62+13_62+15delinsTTT , LRG_789t1:c.62+13_62+15delinsTTT	NP_006222.2:n.62+13_62+15delinsTTT
XM_011534795.1:c.62+13_62+15delinsTTT	XP_011533097.1:n.62+13_62+15delinsTTT
XM_011534799.1:c.62+13_62+15delinsTTT	XP_011533101.1:n.62+13_62+15delinsTTT
XM_011534800.1:c.62+13_62+15delinsTTT	XP_011533102.1:n.62+13_62+15delinsTTT
XM_011534801.1:c.62+13_62+15delinsTTT	XP_011533103.1:n.62+13_62+15delinsTTT
XR_941395.1:n.271+13_271+15delinsTTT
XM_011534795.3:c.62+13_62+15delinsTTT	XP_011533097.1:n.62+13_62+15delinsTTT
XM_011534799.2:c.62+13_62+15delinsTTT	XP_011533101.1:n.62+13_62+15delinsTTT
XR_002957338.1:n.266+13_266+15delinsTTT
XR_002957339.1:n.266+13_266+15delinsTTT
XR_941395.2:n.266+13_266+15delinsTTT
NM_006231.4:c.62+13_62+15delinsTTT MANE Select	NP_006222.2:n.62+13_62+15delinsTTT