Canonical Allele Identifier: CA2622056706

Gene: POLE

Linked Data

• gnomAD v4: 12-132661527-CTCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132661533_132661535del , CM000674.2:g.132661533_132661535del	GRCh38
NC_000012.11:g.133238119_133238121del , CM000674.1:g.133238119_133238121del	GRCh37
NC_000012.10:g.131748192_131748194del	NCBI36
NG_033840.1:g.30995_30997del , LRG_789:g.30995_30997del

Transcript Alleles

HGVS	Amino-acid change
ENST00000544870.6:c.482_484del	ENSP00000479927.2:p.Lys161del
ENST00000699982.1:c.2715_2717del
ENST00000699983.1:c.2715_2717del
ENST00000699984.1:c.2715_2717del
ENST00000320574.10:c.2861_2863del MANE Select	ENSP00000322570.5:p.Lys954del
ENST00000672002.1:c.482_484del	ENSP00000500233.1:p.Lys161del
ENST00000672742.1:c.*2363_*2365del	ENSP00000500279.1:n.*2363_*2365del
ENST00000320574.9:c.2861_2863del	ENSP00000322570.5:p.Lys954del
ENST00000535270.5:c.2780_2782del	ENSP00000445753.1:p.Lys927del
ENST00000537064.5:c.*1908_*1910del	ENSP00000442578.1:n.*1908_*1910del
NM_006231.3:c.2861_2863del , LRG_789t1:c.2861_2863del	NP_006222.2:p.Lys954del
XM_011534795.1:c.2861_2863del	XP_011533097.1:p.Lys954del
XM_011534796.1:c.2732_2734del	XP_011533098.1:p.Lys911del
XM_011534797.1:c.1940_1942del	XP_011533099.1:p.Lys647del
XM_011534798.1:c.1523_1525del	XP_011533100.1:p.Lys508del
XM_011534799.1:c.2861_2863del	XP_011533101.1:p.Lys954del
XM_011534800.1:c.2861_2863del	XP_011533102.1:p.Lys954del
XM_011534801.1:c.2861_2863del	XP_011533103.1:p.Lys954del
XR_941395.1:n.3070_3072del
XM_011534795.3:c.2861_2863del	XP_011533097.1:p.Lys954del
XM_011534797.3:c.1940_1942del	XP_011533099.1:p.Lys647del
XM_011534799.2:c.2861_2863del	XP_011533101.1:p.Lys954del
XR_002957338.1:n.3065_3067del
XR_002957339.1:n.3065_3067del
XR_941395.2:n.3065_3067del
NM_006231.4:c.2861_2863del MANE Select	NP_006222.2:p.Lys954del