Canonical Allele Identifier: CA6893924

Gene: POLE

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132672813_132672814del , CM000674.2:g.132672813_132672814del	GRCh38
NC_000012.11:g.133249399_133249400del , CM000674.1:g.133249399_133249400del	GRCh37
NC_000012.10:g.131759472_131759473del	NCBI36
NG_033840.1:g.19715_19716del , LRG_789:g.19715_19716del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.211_212del
ENST00000545015.2:n.1530_1531del
ENST00000699982.1:c.1357_1358del
ENST00000699983.1:c.1357_1358del
ENST00000699984.1:c.1357_1358del
ENST00000320574.10:c.1503_1504del MANE Select	ENSP00000322570.5:p.Cys501Ter
ENST00000672742.1:c.*1005_*1006del	ENSP00000500279.1:n.*1005_*1006del
ENST00000320574.9:c.1503_1504del	ENSP00000322570.5:p.Cys501Ter
ENST00000535270.5:c.1422_1423del	ENSP00000445753.1:p.Cys474Ter
ENST00000535934.2:n.1378_1379del
ENST00000537064.5:c.*550_*551del	ENSP00000442578.1:n.*550_*551del
ENST00000539215.5:n.211_212del
ENST00000545015.1:n.100_101del
NM_006231.3:c.1503_1504del , LRG_789t1:c.1503_1504del	NP_006222.2:p.Cys501Ter
XM_011534795.1:c.1503_1504del	XP_011533097.1:p.Cys501Ter
XM_011534796.1:c.1374_1375del	XP_011533098.1:p.Cys458Ter
XM_011534797.1:c.582_583del	XP_011533099.1:p.Cys194Ter
XM_011534798.1:c.165_166del	XP_011533100.1:p.Cys55Ter
XM_011534799.1:c.1503_1504del	XP_011533101.1:p.Cys501Ter
XM_011534800.1:c.1503_1504del	XP_011533102.1:p.Cys501Ter
XM_011534801.1:c.1503_1504del	XP_011533103.1:p.Cys501Ter
XR_941395.1:n.1712_1713del
XM_011534795.3:c.1503_1504del	XP_011533097.1:p.Cys501Ter
XM_011534797.3:c.582_583del	XP_011533099.1:p.Cys194Ter
XM_011534799.2:c.1503_1504del	XP_011533101.1:p.Cys501Ter
XR_002957338.1:n.1707_1708del
XR_002957339.1:n.1707_1708del
XR_941395.2:n.1707_1708del
NM_006231.4:c.1503_1504del MANE Select	NP_006222.2:p.Cys501Ter