Canonical Allele Identifier: CA10582975

Gene: POLE

Linked Data

• ClinVar Variation Id: 240562
• ClinVar RCV Id: RCV000226113 ; RCV001024227 ; RCV002503913 ; RCV003539853
• dbSNP Id: rs868246375
• gnomAD v2: 12-133215732-ATGT-A
• gnomAD v4: 12-132639146-ATGT-A
• MyVariant Identifiers: chr12:g.133215733_133215735del (hg19) ; chr12:g.132639148_132639150del (hg38) ; chr12:g.132639147_132639149del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132639150_132639152del , CM000674.2:g.132639150_132639152del	GRCh38
NC_000012.11:g.133215736_133215738del , CM000674.1:g.133215736_133215738del	GRCh37
NC_000012.10:g.131725809_131725811del	NCBI36
NG_033840.1:g.53376_53378del , LRG_789:g.53376_53378del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000416953.3:n.3698_3700del
ENST00000434528.5:c.1066_1068del	ENSP00000500921.1:n.1066_1068del
ENST00000544870.6:c.3201_3203del	ENSP00000479927.2:n.3201_3203del
ENST00000699981.1:n.3182_3184del
ENST00000699982.1:c.5382_5384del
ENST00000699983.1:c.6086_6088del
ENST00000699984.1:c.5382_5384del
ENST00000320574.10:c.5528_5530del MANE Select	ENSP00000322570.5:p.Asn1843del
ENST00000434528.4:c.1066_1068del	ENSP00000500921.1:n.1066_1068del
ENST00000672002.1:c.3201_3203del	ENSP00000500233.1:n.3201_3203del
ENST00000672742.1:c.*5734_*5736del	ENSP00000500279.1:n.*5734_*5736del
ENST00000320574.9:c.5528_5530del	ENSP00000322570.5:p.Asn1843del
ENST00000434528.3:n.511_513del
ENST00000535270.5:c.5447_5449del	ENSP00000445753.1:p.Asn1816del
ENST00000537064.5:c.*5279_*5281del	ENSP00000442578.1:n.*5279_*5281del
ENST00000541213.5:n.21_23del
NM_006231.3:c.5528_5530del , LRG_789t1:c.5528_5530del	NP_006222.2:p.Asn1843del
XM_011534795.1:c.5528_5530del	XP_011533097.1:p.Asn1843del
XM_011534796.1:c.5399_5401del	XP_011533098.1:p.Asn1800del
XM_011534797.1:c.4607_4609del	XP_011533099.1:p.Asn1536del
XM_011534798.1:c.4190_4192del	XP_011533100.1:p.Asn1397del
XM_011534802.1:c.2516_2518del	XP_011533104.1:p.Asn839del
XM_011534795.3:c.5528_5530del	XP_011533097.1:p.Asn1843del
XM_011534797.3:c.4607_4609del	XP_011533099.1:p.Asn1536del
XM_011534802.3:c.2516_2518del	XP_011533104.1:p.Asn839del
XR_002957338.1:n.6361_6363del
XR_002957339.1:n.6074_6076del
NM_006231.4:c.5528_5530del MANE Select	NP_006222.2:p.Asn1843del