Canonical Allele Identifier: CA2573148139
Community Standard Title: NM_006231.4(POLE):c.6398_6407del (p.Val2133AlafsTer?)
Gene: POLE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.132626243_132626252del , CM000674.2:g.132626243_132626252del GRCh38
NC_000012.11:g.133202829_133202838del , CM000674.1:g.133202829_133202838del GRCh37
NC_000012.10:g.131712902_131712911del NCBI36
NG_033840.1:g.66275_66284del , LRG_789:g.66275_66284del

Transcript Alleles

HGVS Amino-acid Change
NM_006231.4:c.6398_6407del MANE Select NP_006222.2:p.Val2133AlafsTer?
ENST00000320574.10:c.6398_6407del MANE Select ENSP00000322570.5:p.Val2133AlafsTer?
NM_006231.3:c.6398_6407del , LRG_789t1:c.6398_6407del NP_006222.2:p.Val2133AlafsTer?
ENST00000320574.9:c.6398_6407del ENSP00000322570.5:p.Val2133AlafsTer?
ENST00000434528.4:c.1936_1945del ENSP00000500921.1:n.1936_1945del
ENST00000434528.5:c.1936_1945del ENSP00000500921.1:n.1936_1945del
ENST00000534922.5:n.311_320del
ENST00000534922.6:n.311_320del
ENST00000535270.5:c.6317_6326del ENSP00000445753.1:p.Val2106AlafsTer?
ENST00000537064.5:c.*6149_*6158del ENSP00000442578.1:n.*6149_*6158del
ENST00000538196.1:n.170_179del
ENST00000544692.5:n.1767_1776del
ENST00000544870.6:c.4051_4060del ENSP00000479927.2:n.4051_4060del
ENST00000672002.1:c.4071_4080del ENSP00000500233.1:n.4071_4080del
ENST00000672742.1:c.*6604_*6613del ENSP00000500279.1:n.*6604_*6613del
ENST00000699981.1:n.4052_4061del
ENST00000699982.1:c.6252_6261del
ENST00000699983.1:c.6956_6965del
ENST00000699984.1:c.6184_6193del
XM_011534795.1:c.6398_6407del XP_011533097.1:p.Val2133AlafsTer?
XM_011534795.3:c.6398_6407del XP_011533097.1:p.Val2133AlafsTer?
XM_011534796.1:c.6269_6278del XP_011533098.1:p.Val2090AlafsTer?
XM_011534797.1:c.5477_5486del XP_011533099.1:p.Val1826AlafsTer?
XM_011534797.3:c.5477_5486del XP_011533099.1:p.Val1826AlafsTer?
XM_011534798.1:c.5060_5069del XP_011533100.1:p.Val1687AlafsTer?
XM_011534802.1:c.3386_3395del XP_011533104.1:p.Val1129AlafsTer?
XM_011534802.3:c.3386_3395del XP_011533104.1:p.Val1129AlafsTer?
XR_002957339.1:n.6944_6953del