Canonical Allele Identifier: CA2575359283

Gene: POLE

Linked Data

• gnomAD v4: 12-132673270-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132673272del , CM000674.2:g.132673272del	GRCh38
NC_000012.11:g.133249858del , CM000674.1:g.133249858del	GRCh37
NC_000012.10:g.131759931del	NCBI36
NG_033840.1:g.19254del , LRG_789:g.19254del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.74del
ENST00000545015.2:n.1393del
ENST00000699982.1:c.1220del
ENST00000699983.1:c.1220del
ENST00000699984.1:c.1220del
ENST00000320574.10:c.1366del MANE Select	ENSP00000322570.5:p.Ala456ProfsTer16
ENST00000672742.1:c.*868del	ENSP00000500279.1:n.*868del
ENST00000320574.9:c.1366del	ENSP00000322570.5:p.Ala456ProfsTer16
ENST00000535270.5:c.1285del	ENSP00000445753.1:p.Ala429ProfsTer16
ENST00000535934.2:n.1241del
ENST00000537064.5:c.*413del	ENSP00000442578.1:n.*413del
ENST00000539215.5:n.74del
NM_006231.3:c.1366del , LRG_789t1:c.1366del	NP_006222.2:p.Ala456ProfsTer16
XM_011534795.1:c.1366del	XP_011533097.1:p.Ala456ProfsTer16
XM_011534796.1:c.1237del	XP_011533098.1:p.Ala413ProfsTer16
XM_011534797.1:c.445del	XP_011533099.1:p.Ala149ProfsTer16
XM_011534798.1:c.28del	XP_011533100.1:p.Ala10ProfsTer16
XM_011534799.1:c.1366del	XP_011533101.1:p.Ala456ProfsTer16
XM_011534800.1:c.1366del	XP_011533102.1:p.Ala456ProfsTer16
XM_011534801.1:c.1366del	XP_011533103.1:p.Ala456ProfsTer16
XR_941395.1:n.1575del
XM_011534795.3:c.1366del	XP_011533097.1:p.Ala456ProfsTer16
XM_011534797.3:c.445del	XP_011533099.1:p.Ala149ProfsTer16
XM_011534799.2:c.1366del	XP_011533101.1:p.Ala456ProfsTer16
XR_002957338.1:n.1570del
XR_002957339.1:n.1570del
XR_941395.2:n.1570del
NM_006231.4:c.1366del MANE Select	NP_006222.2:p.Ala456ProfsTer16