Canonical Allele Identifier: CA658658193

Gene: POLE

Linked Data

• ClinVar Variation Id: 473557
• ClinVar RCV Id: RCV003654982
• dbSNP Id: rs1555226012
• gnomAD v4: 12-132661515-TGA-T
• MyVariant Identifiers: chr12:g.133238102_133238103del (hg19) ; chr12:g.132661516_132661517del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132661519_132661520del , CM000674.2:g.132661519_132661520del	GRCh38
NC_000012.11:g.133238105_133238106del , CM000674.1:g.133238105_133238106del	GRCh37
NC_000012.10:g.131748178_131748179del	NCBI36
NG_033840.1:g.31008_31009del , LRG_789:g.31008_31009del

Transcript Alleles

HGVS	Amino-acid change
ENST00000544870.6:c.485+10_485+11del	ENSP00000479927.2:n.485+10_485+11del
ENST00000699982.1:c.2718+10_2718+11del
ENST00000699983.1:c.2718+10_2718+11del
ENST00000699984.1:c.2718+10_2718+11del
ENST00000320574.10:c.2864+10_2864+11del MANE Select	ENSP00000322570.5:n.2864+10_2864+11del
ENST00000672002.1:c.485+10_485+11del	ENSP00000500233.1:n.485+10_485+11del
ENST00000672742.1:c.*2366+10_*2366+11del	ENSP00000500279.1:n.*2366+10_*2366+11del
ENST00000320574.9:c.2864+10_2864+11del	ENSP00000322570.5:n.2864+10_2864+11del
ENST00000535270.5:c.2783+10_2783+11del	ENSP00000445753.1:n.2783+10_2783+11del
ENST00000537064.5:c.*1911+10_*1911+11del	ENSP00000442578.1:n.*1911+10_*1911+11del
NM_006231.3:c.2864+10_2864+11del , LRG_789t1:c.2864+10_2864+11del	NP_006222.2:n.2864+10_2864+11del
XM_011534795.1:c.2864+10_2864+11del	XP_011533097.1:n.2864+10_2864+11del
XM_011534796.1:c.2735+10_2735+11del	XP_011533098.1:n.2735+10_2735+11del
XM_011534797.1:c.1943+10_1943+11del	XP_011533099.1:n.1943+10_1943+11del
XM_011534798.1:c.1526+10_1526+11del	XP_011533100.1:n.1526+10_1526+11del
XM_011534799.1:c.2864+10_2864+11del	XP_011533101.1:n.2864+10_2864+11del
XM_011534800.1:c.2864+10_2864+11del	XP_011533102.1:n.2864+10_2864+11del
XM_011534801.1:c.2864+10_2864+11del	XP_011533103.1:n.2864+10_2864+11del
XR_941395.1:n.3073+10_3073+11del
XM_011534795.3:c.2864+10_2864+11del	XP_011533097.1:n.2864+10_2864+11del
XM_011534797.3:c.1943+10_1943+11del	XP_011533099.1:n.1943+10_1943+11del
XM_011534799.2:c.2864+10_2864+11del	XP_011533101.1:n.2864+10_2864+11del
XR_002957338.1:n.3068+10_3068+11del
XR_002957339.1:n.3068+10_3068+11del
XR_941395.2:n.3068+10_3068+11del
NM_006231.4:c.2864+10_2864+11del MANE Select	NP_006222.2:n.2864+10_2864+11del