Canonical Allele Identifier: CA246292571

Gene: POLE

Linked Data

• dbSNP Id: rs975423455
• gnomAD v2: 12-133248600-AC-A
• gnomAD v3: 12-132672014-AC-A
• gnomAD v4: 12-132672014-AC-A
• MyVariant Identifiers: chr12:g.133248601del (hg19) ; chr12:g.132672015del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132672018del , CM000674.2:g.132672018del	GRCh38
NC_000012.11:g.133248604del , CM000674.1:g.133248604del	GRCh37
NC_000012.10:g.131758677del	NCBI36
NG_033840.1:g.20510del , LRG_789:g.20510del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.549+200del
ENST00000699982.1:c.1648+200del
ENST00000699983.1:c.1648+200del
ENST00000699984.1:c.1648+200del
ENST00000320574.10:c.1794+200del MANE Select	ENSP00000322570.5:n.1794+200del
ENST00000672742.1:c.*1296+200del	ENSP00000500279.1:n.*1296+200del
ENST00000320574.9:c.1794+200del	ENSP00000322570.5:n.1794+200del
ENST00000535270.5:c.1713+200del	ENSP00000445753.1:n.1713+200del
ENST00000537064.5:c.*841+200del	ENSP00000442578.1:n.*841+200del
NM_006231.3:c.1794+200del , LRG_789t1:c.1794+200del	NP_006222.2:n.1794+200del
XM_011534795.1:c.1794+200del	XP_011533097.1:n.1794+200del
XM_011534796.1:c.1665+200del	XP_011533098.1:n.1665+200del
XM_011534797.1:c.873+200del	XP_011533099.1:n.873+200del
XM_011534798.1:c.456+200del	XP_011533100.1:n.456+200del
XM_011534799.1:c.1794+200del	XP_011533101.1:n.1794+200del
XM_011534800.1:c.1794+200del	XP_011533102.1:n.1794+200del
XM_011534801.1:c.1794+200del	XP_011533103.1:n.1794+200del
XR_941395.1:n.2003+200del
XM_011534795.3:c.1794+200del	XP_011533097.1:n.1794+200del
XM_011534797.3:c.873+200del	XP_011533099.1:n.873+200del
XM_011534799.2:c.1794+200del	XP_011533101.1:n.1794+200del
XR_002957338.1:n.1998+200del
XR_002957339.1:n.1998+200del
XR_941395.2:n.1998+200del
NM_006231.4:c.1794+200del MANE Select	NP_006222.2:n.1794+200del