Canonical Allele Identifier: CA953518482

Gene: POLE

Linked Data

• dbSNP Id: rs2042945212
• gnomAD v3: 12-132672258-T-TC
• gnomAD v4: 12-132672258-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132672260dup , CM000674.2:g.132672260dup	GRCh38
NC_000012.11:g.133248846dup , CM000674.1:g.133248846dup	GRCh37
NC_000012.10:g.131758919dup	NCBI36
NG_033840.1:g.20266dup , LRG_789:g.20266dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.505dup
ENST00000699982.1:c.1604dup
ENST00000699983.1:c.1604dup
ENST00000699984.1:c.1604dup
ENST00000320574.10:c.1750dup MANE Select	ENSP00000322570.5:p.Glu584GlyfsTer14
ENST00000672742.1:c.*1252dup	ENSP00000500279.1:n.*1252dup
ENST00000320574.9:c.1750dup	ENSP00000322570.5:p.Glu584GlyfsTer14
ENST00000535270.5:c.1669dup	ENSP00000445753.1:p.Glu557GlyfsTer14
ENST00000537064.5:c.*797dup	ENSP00000442578.1:n.*797dup
NM_006231.3:c.1750dup , LRG_789t1:c.1750dup	NP_006222.2:p.Glu584GlyfsTer14
XM_011534795.1:c.1750dup	XP_011533097.1:p.Glu584GlyfsTer14
XM_011534796.1:c.1621dup	XP_011533098.1:p.Glu541GlyfsTer14
XM_011534797.1:c.829dup	XP_011533099.1:p.Glu277GlyfsTer14
XM_011534798.1:c.412dup	XP_011533100.1:p.Glu138GlyfsTer14
XM_011534799.1:c.1750dup	XP_011533101.1:p.Glu584GlyfsTer14
XM_011534800.1:c.1750dup	XP_011533102.1:p.Glu584GlyfsTer14
XM_011534801.1:c.1750dup	XP_011533103.1:p.Glu584GlyfsTer14
XR_941395.1:n.1959dup
XM_011534795.3:c.1750dup	XP_011533097.1:p.Glu584GlyfsTer14
XM_011534797.3:c.829dup	XP_011533099.1:p.Glu277GlyfsTer14
XM_011534799.2:c.1750dup	XP_011533101.1:p.Glu584GlyfsTer14
XR_002957338.1:n.1954dup
XR_002957339.1:n.1954dup
XR_941395.2:n.1954dup
NM_006231.4:c.1750dup MANE Select	NP_006222.2:p.Glu584GlyfsTer14