Canonical Allele Identifier: CA2073000973

Gene: POLE

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132672093_132672095delinsCCT , CM000674.2:g.132672093_132672095delinsCCT	GRCh38
NC_000012.11:g.133248679_133248681delinsCCT , CM000674.1:g.133248679_133248681delinsCCT	GRCh37
NC_000012.10:g.131758752_131758754delinsCCT	NCBI36
NG_033840.1:g.20430_20432delinsAGG , LRG_789:g.20430_20432delinsAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.549+120_549+122delinsAGG
ENST00000699982.1:c.1648+120_1648+122delinsAGG
ENST00000699983.1:c.1648+120_1648+122delinsAGG
ENST00000699984.1:c.1648+120_1648+122delinsAGG
ENST00000320574.10:c.1794+120_1794+122delinsAGG MANE Select	ENSP00000322570.5:n.1794+120_1794+122delinsAGG
ENST00000672742.1:c.*1296+120_*1296+122delinsAGG	ENSP00000500279.1:n.*1296+120_*1296+122delinsAGG
ENST00000320574.9:c.1794+120_1794+122delinsAGG	ENSP00000322570.5:n.1794+120_1794+122delinsAGG
ENST00000535270.5:c.1713+120_1713+122delinsAGG	ENSP00000445753.1:n.1713+120_1713+122delinsAGG
ENST00000537064.5:c.*841+120_*841+122delinsAGG	ENSP00000442578.1:n.*841+120_*841+122delinsAGG
NM_006231.3:c.1794+120_1794+122delinsAGG , LRG_789t1:c.1794+120_1794+122delinsAGG	NP_006222.2:n.1794+120_1794+122delinsAGG
XM_011534795.1:c.1794+120_1794+122delinsAGG	XP_011533097.1:n.1794+120_1794+122delinsAGG
XM_011534796.1:c.1665+120_1665+122delinsAGG	XP_011533098.1:n.1665+120_1665+122delinsAGG
XM_011534797.1:c.873+120_873+122delinsAGG	XP_011533099.1:n.873+120_873+122delinsAGG
XM_011534798.1:c.456+120_456+122delinsAGG	XP_011533100.1:n.456+120_456+122delinsAGG
XM_011534799.1:c.1794+120_1794+122delinsAGG	XP_011533101.1:n.1794+120_1794+122delinsAGG
XM_011534800.1:c.1794+120_1794+122delinsAGG	XP_011533102.1:n.1794+120_1794+122delinsAGG
XM_011534801.1:c.1794+120_1794+122delinsAGG	XP_011533103.1:n.1794+120_1794+122delinsAGG
XR_941395.1:n.2003+120_2003+122delinsAGG
XM_011534795.3:c.1794+120_1794+122delinsAGG	XP_011533097.1:n.1794+120_1794+122delinsAGG
XM_011534797.3:c.873+120_873+122delinsAGG	XP_011533099.1:n.873+120_873+122delinsAGG
XM_011534799.2:c.1794+120_1794+122delinsAGG	XP_011533101.1:n.1794+120_1794+122delinsAGG
XR_002957338.1:n.1998+120_1998+122delinsAGG
XR_002957339.1:n.1998+120_1998+122delinsAGG
XR_941395.2:n.1998+120_1998+122delinsAGG
NM_006231.4:c.1794+120_1794+122delinsAGG MANE Select	NP_006222.2:n.1794+120_1794+122delinsAGG