Canonical Allele Identifier: CA608514276

Gene: POLE

Linked Data

• ClinVar Variation Id: 2847181
• ClinVar RCV Id: RCV003690662
• dbSNP Id: rs1300489768
• gnomAD v2: 12-133248886-AG-A
• MyVariant Identifiers: chr12:g.133248887del (hg19) ; chr12:g.132672301del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132672302del , CM000674.2:g.132672302del	GRCh38
NC_000012.11:g.133248888del , CM000674.1:g.133248888del	GRCh37
NC_000012.10:g.131758961del	NCBI36
NG_033840.1:g.20224del , LRG_789:g.20224del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.463del
ENST00000699982.1:c.1562del
ENST00000699983.1:c.1562del
ENST00000699984.1:c.1562del
ENST00000320574.10:c.1708del MANE Select	ENSP00000322570.5:p.Leu570CysfsTer?
ENST00000672742.1:c.*1210del	ENSP00000500279.1:n.*1210del
ENST00000320574.9:c.1708del	ENSP00000322570.5:p.Leu570CysfsTer?
ENST00000535270.5:c.1627del	ENSP00000445753.1:p.Leu543CysfsTer?
ENST00000537064.5:c.*755del	ENSP00000442578.1:n.*755del
ENST00000539215.5:n.463del
NM_006231.3:c.1708del , LRG_789t1:c.1708del	NP_006222.2:p.Leu570CysfsTer?
XM_011534795.1:c.1708del	XP_011533097.1:p.Leu570CysfsTer?
XM_011534796.1:c.1579del	XP_011533098.1:p.Leu527CysfsTer?
XM_011534797.1:c.787del	XP_011533099.1:p.Leu263CysfsTer?
XM_011534798.1:c.370del	XP_011533100.1:p.Leu124CysfsTer?
XM_011534799.1:c.1708del	XP_011533101.1:p.Leu570CysfsTer?
XM_011534800.1:c.1708del	XP_011533102.1:p.Leu570CysfsTer?
XM_011534801.1:c.1708del	XP_011533103.1:p.Leu570CysfsTer?
XR_941395.1:n.1917del
XM_011534795.3:c.1708del	XP_011533097.1:p.Leu570CysfsTer?
XM_011534797.3:c.787del	XP_011533099.1:p.Leu263CysfsTer?
XM_011534799.2:c.1708del	XP_011533101.1:p.Leu570CysfsTer?
XR_002957338.1:n.1912del
XR_002957339.1:n.1912del
XR_941395.2:n.1912del
NM_006231.4:c.1708del MANE Select	NP_006222.2:p.Leu570CysfsTer?