Canonical Allele Identifier: CA2073001031

Gene: POLE

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132672178_132672180delinsAAC , CM000674.2:g.132672178_132672180delinsAAC	GRCh38
NC_000012.11:g.133248764_133248766delinsAAC , CM000674.1:g.133248764_133248766delinsAAC	GRCh37
NC_000012.10:g.131758837_131758839delinsAAC	NCBI36
NG_033840.1:g.20345_20347delinsGTT , LRG_789:g.20345_20347delinsGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.549+35_549+37delinsGTT
ENST00000699982.1:c.1648+35_1648+37delinsGTT
ENST00000699983.1:c.1648+35_1648+37delinsGTT
ENST00000699984.1:c.1648+35_1648+37delinsGTT
ENST00000320574.10:c.1794+35_1794+37delinsGTT MANE Select	ENSP00000322570.5:n.1794+35_1794+37delinsGTT
ENST00000672742.1:c.*1296+35_*1296+37delinsGTT	ENSP00000500279.1:n.*1296+35_*1296+37delinsGTT
ENST00000320574.9:c.1794+35_1794+37delinsGTT	ENSP00000322570.5:n.1794+35_1794+37delinsGTT
ENST00000535270.5:c.1713+35_1713+37delinsGTT	ENSP00000445753.1:n.1713+35_1713+37delinsGTT
ENST00000537064.5:c.*841+35_*841+37delinsGTT	ENSP00000442578.1:n.*841+35_*841+37delinsGTT
NM_006231.3:c.1794+35_1794+37delinsGTT , LRG_789t1:c.1794+35_1794+37delinsGTT	NP_006222.2:n.1794+35_1794+37delinsGTT
XM_011534795.1:c.1794+35_1794+37delinsGTT	XP_011533097.1:n.1794+35_1794+37delinsGTT
XM_011534796.1:c.1665+35_1665+37delinsGTT	XP_011533098.1:n.1665+35_1665+37delinsGTT
XM_011534797.1:c.873+35_873+37delinsGTT	XP_011533099.1:n.873+35_873+37delinsGTT
XM_011534798.1:c.456+35_456+37delinsGTT	XP_011533100.1:n.456+35_456+37delinsGTT
XM_011534799.1:c.1794+35_1794+37delinsGTT	XP_011533101.1:n.1794+35_1794+37delinsGTT
XM_011534800.1:c.1794+35_1794+37delinsGTT	XP_011533102.1:n.1794+35_1794+37delinsGTT
XM_011534801.1:c.1794+35_1794+37delinsGTT	XP_011533103.1:n.1794+35_1794+37delinsGTT
XR_941395.1:n.2003+35_2003+37delinsGTT
XM_011534795.3:c.1794+35_1794+37delinsGTT	XP_011533097.1:n.1794+35_1794+37delinsGTT
XM_011534797.3:c.873+35_873+37delinsGTT	XP_011533099.1:n.873+35_873+37delinsGTT
XM_011534799.2:c.1794+35_1794+37delinsGTT	XP_011533101.1:n.1794+35_1794+37delinsGTT
XR_002957338.1:n.1998+35_1998+37delinsGTT
XR_002957339.1:n.1998+35_1998+37delinsGTT
XR_941395.2:n.1998+35_1998+37delinsGTT
NM_006231.4:c.1794+35_1794+37delinsGTT MANE Select	NP_006222.2:n.1794+35_1794+37delinsGTT