Canonical Allele Identifier: CA658658192

Gene: POLE

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132659474_132659494dup , CM000674.2:g.132659474_132659494dup	GRCh38
NC_000012.11:g.133236060_133236080dup , CM000674.1:g.133236060_133236080dup	GRCh37
NC_000012.10:g.131746133_131746153dup	NCBI36
NG_033840.1:g.33031_33051dup , LRG_789:g.33031_33051dup

Transcript Alleles

HGVS	Amino-acid Change
NM_006231.4:c.3076_3096dup MANE Select	NP_006222.2:p.Leu1032_Ile1033insAspSerGluLeuPheGluLeu
ENST00000320574.10:c.3076_3096dup MANE Select	ENSP00000322570.5:p.Leu1032_Ile1033insAspSerGluLeuPheGluLeu
NM_006231.3:c.3076_3096dup , LRG_789t1:c.3076_3096dup	NP_006222.2:p.Leu1032_Ile1033insAspSerGluLeuPheGluLeu
ENST00000320574.9:c.3076_3096dup	ENSP00000322570.5:p.Leu1032_Ile1033insAspSerGluLeuPheGluLeu
ENST00000535270.5:c.2995_3015dup	ENSP00000445753.1:p.Leu1005_Ile1006insAspSerGluLeuPheGluLeu
ENST00000536445.5:n.1420_1440dup
ENST00000537064.5:c.*2123_*2143dup	ENSP00000442578.1:n.*2123_*2143dup
ENST00000544870.6:c.697_717dup	ENSP00000479927.2:p.Leu239_Ile240insAspSerGluLeuPheGluLeu
ENST00000672002.1:c.697_717dup	ENSP00000500233.1:p.Leu239_Ile240insAspSerGluLeuPheGluLeu
ENST00000672742.1:c.*2578_*2598dup	ENSP00000500279.1:n.*2578_*2598dup
ENST00000699982.1:c.2930_2950dup
ENST00000699983.1:c.2930_2950dup
ENST00000699984.1:c.2930_2950dup
XM_011534795.1:c.3076_3096dup	XP_011533097.1:p.Leu1032_Ile1033insAspSerGluLeuPheGluLeu
XM_011534795.3:c.3076_3096dup	XP_011533097.1:p.Leu1032_Ile1033insAspSerGluLeuPheGluLeu
XM_011534796.1:c.2947_2967dup	XP_011533098.1:p.Leu989_Ile990insAspSerGluLeuPheGluLeu
XM_011534797.1:c.2155_2175dup	XP_011533099.1:p.Leu725_Ile726insAspSerGluLeuPheGluLeu
XM_011534797.3:c.2155_2175dup	XP_011533099.1:p.Leu725_Ile726insAspSerGluLeuPheGluLeu
XM_011534798.1:c.1738_1758dup	XP_011533100.1:p.Leu586_Ile587insAspSerGluLeuPheGluLeu
XM_011534799.1:c.3076_3096dup	XP_011533101.1:p.Leu1032_Ile1033insAspSerGluLeuPheGluLeu
XM_011534799.2:c.3076_3096dup	XP_011533101.1:p.Leu1032_Ile1033insAspSerGluLeuPheGluLeu
XM_011534800.1:c.3076_3096dup	XP_011533102.1:p.Leu1032_Ile1033insAspSerGluLeuPheGluLeu
XM_011534801.1:c.3076_3096dup	XP_011533103.1:p.Leu1032_Ile1033insAspSerGluLeuPheGluLeu
XM_011534802.1:c.64_84dup	XP_011533104.1:p.Leu28_Ile29insAspSerGluLeuPheGluLeu
XM_011534802.3:c.64_84dup	XP_011533104.1:p.Leu28_Ile29insAspSerGluLeuPheGluLeu
XR_002957338.1:n.3280_3300dup
XR_002957339.1:n.3280_3300dup
XR_941395.1:n.3285_3305dup
XR_941395.2:n.3280_3300dup