Canonical Allele Identifier: CA2573053632
Community Standard Title: NM_006231.4(POLE):c.2734_2735delinsAT (p.Glu912Met)
Gene: POLE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.132661656_132661657delinsAT , CM000674.2:g.132661656_132661657delinsAT GRCh38
NC_000012.11:g.133238242_133238243delinsAT , CM000674.1:g.133238242_133238243delinsAT GRCh37
NC_000012.10:g.131748315_131748316delinsAT NCBI36
NG_033840.1:g.30868_30869delinsAT , LRG_789:g.30868_30869delinsAT

Transcript Alleles

HGVS Amino-acid Change
NM_006231.4:c.2734_2735delinsAT MANE Select NP_006222.2:p.Glu912Met
ENST00000320574.10:c.2734_2735delinsAT MANE Select ENSP00000322570.5:p.Glu912Met
NM_006231.3:c.2734_2735delinsAT , LRG_789t1:c.2734_2735delinsAT NP_006222.2:p.Glu912Met
ENST00000320574.9:c.2734_2735delinsAT ENSP00000322570.5:p.Glu912Met
ENST00000535270.5:c.2653_2654delinsAT ENSP00000445753.1:p.Glu885Met
ENST00000537064.5:c.*1781_*1782delinsAT ENSP00000442578.1:n.*1781_*1782delinsAT
ENST00000544870.6:c.355_356delinsAT ENSP00000479927.2:p.Glu119Met
ENST00000672002.1:c.355_356delinsAT ENSP00000500233.1:p.Glu119Met
ENST00000672742.1:c.*2236_*2237delinsAT ENSP00000500279.1:n.*2236_*2237delinsAT
ENST00000699982.1:c.2588_2589delinsAT
ENST00000699983.1:c.2588_2589delinsAT
ENST00000699984.1:c.2588_2589delinsAT
XM_011534795.1:c.2734_2735delinsAT XP_011533097.1:p.Glu912Met
XM_011534795.3:c.2734_2735delinsAT XP_011533097.1:p.Glu912Met
XM_011534796.1:c.2605_2606delinsAT XP_011533098.1:p.Glu869Met
XM_011534797.1:c.1813_1814delinsAT XP_011533099.1:p.Glu605Met
XM_011534797.3:c.1813_1814delinsAT XP_011533099.1:p.Glu605Met
XM_011534798.1:c.1396_1397delinsAT XP_011533100.1:p.Glu466Met
XM_011534799.1:c.2734_2735delinsAT XP_011533101.1:p.Glu912Met
XM_011534799.2:c.2734_2735delinsAT XP_011533101.1:p.Glu912Met
XM_011534800.1:c.2734_2735delinsAT XP_011533102.1:p.Glu912Met
XM_011534801.1:c.2734_2735delinsAT XP_011533103.1:p.Glu912Met
XR_002957338.1:n.2938_2939delinsAT
XR_002957339.1:n.2938_2939delinsAT
XR_941395.1:n.2943_2944delinsAT
XR_941395.2:n.2938_2939delinsAT