Canonical Allele Identifier: CA6893330

Gene: POLE

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132659329_132659339del , CM000674.2:g.132659329_132659339del	GRCh38
NC_000012.11:g.133235915_133235925del , CM000674.1:g.133235915_133235925del	GRCh37
NC_000012.10:g.131745988_131745998del	NCBI36
NG_033840.1:g.33187_33197del , LRG_789:g.33187_33197del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000544870.6:c.853_863del	ENSP00000479927.2:p.Tyr285ProfsTer19
ENST00000699982.1:c.3086_3096del
ENST00000699983.1:c.3086_3096del
ENST00000699984.1:c.3086_3096del
ENST00000320574.10:c.3232_3242del MANE Select	ENSP00000322570.5:p.Tyr1078ProfsTer?
ENST00000672002.1:c.853_863del	ENSP00000500233.1:p.Tyr285ProfsTer19
ENST00000672742.1:c.*2734_*2744del	ENSP00000500279.1:n.*2734_*2744del
ENST00000320574.9:c.3232_3242del	ENSP00000322570.5:p.Tyr1078ProfsTer?
ENST00000535270.5:c.3151_3161del	ENSP00000445753.1:p.Tyr1051ProfsTer?
ENST00000536445.5:n.1576_1586del
ENST00000537064.5:c.*2279_*2289del	ENSP00000442578.1:n.*2279_*2289del
NM_006231.3:c.3232_3242del , LRG_789t1:c.3232_3242del	NP_006222.2:p.Tyr1078ProfsTer?
XM_011534795.1:c.3232_3242del	XP_011533097.1:p.Tyr1078ProfsTer?
XM_011534796.1:c.3103_3113del	XP_011533098.1:p.Tyr1035ProfsTer?
XM_011534797.1:c.2311_2321del	XP_011533099.1:p.Tyr771ProfsTer?
XM_011534798.1:c.1894_1904del	XP_011533100.1:p.Tyr632ProfsTer?
XM_011534799.1:c.3232_3242del	XP_011533101.1:p.Tyr1078ProfsTer?
XM_011534800.1:c.3232_3242del	XP_011533102.1:p.Tyr1078ProfsTer?
XM_011534801.1:c.3232_3242del	XP_011533103.1:p.Tyr1078ProfsTer?
XM_011534802.1:c.220_230del	XP_011533104.1:p.Tyr74ProfsTer?
XR_941395.1:n.3441_3451del
XM_011534795.3:c.3232_3242del	XP_011533097.1:p.Tyr1078ProfsTer?
XM_011534797.3:c.2311_2321del	XP_011533099.1:p.Tyr771ProfsTer?
XM_011534799.2:c.3232_3242del	XP_011533101.1:p.Tyr1078ProfsTer?
XM_011534802.3:c.220_230del	XP_011533104.1:p.Tyr74ProfsTer?
XR_002957338.1:n.3436_3446del
XR_002957339.1:n.3436_3446del
XR_941395.2:n.3436_3446del
NM_006231.4:c.3232_3242del MANE Select	NP_006222.2:p.Tyr1078ProfsTer?