Canonical Allele Identifier: CA2619644728
Community Standard Title: NM_013254.4(TBK1):c.1372_1373del (p.Val458SerfsTer18)
Gene: TBK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.64488518_64488519del , CM000674.2:g.64488518_64488519del GRCh38
NC_000012.11:g.64882298_64882299del , CM000674.1:g.64882298_64882299del GRCh37
NC_000012.10:g.63168565_63168566del NCBI36
NG_046906.1:g.41459_41460del

Transcript Alleles

HGVS Amino-acid Change
NM_013254.4:c.1372_1373del MANE Select NP_037386.1:p.Val458SerfsTer18
ENST00000331710.10:c.1372_1373del MANE Select ENSP00000329967.5:p.Val458SerfsTer18
NM_013254.3:c.1372_1373del NP_037386.1:p.Val458SerfsTer18
ENST00000331710.9:c.1372_1373del ENSP00000329967.5:p.Val458SerfsTer18
ENST00000536906.1:n.688_689del
ENST00000650708.1:c.1248_1249del
ENST00000650762.1:c.1185-1523_1185-1522del ENSP00000498758.1:n.1185-1523_1185-1522del
ENST00000650786.1:c.*1517_*1518del ENSP00000498280.1:n.*1517_*1518del
ENST00000650790.1:c.1372_1373del ENSP00000498995.1:p.Val458SerfsTer18
ENST00000650997.1:c.1372_1373del ENSP00000498341.1:p.Val458SerfsTer18
ENST00000651014.1:c.1216_1217del ENSP00000498885.1:p.Val406SerfsTer18
ENST00000651262.1:c.1372_1373del ENSP00000498461.1:p.Val458SerfsTer18
ENST00000651878.1:c.*856_*857del ENSP00000499077.1:n.*856_*857del
ENST00000651889.1:n.1091_1092del
ENST00000651947.1:n.1460_1461del
ENST00000652389.1:c.1372_1373del ENSP00000498414.1:p.Val458SerfsTer18
ENST00000652537.1:c.1372_1373del ENSP00000499102.1:p.Val458SerfsTer18
ENST00000652657.1:c.1372_1373del ENSP00000498887.1:p.Val458SerfsTer18
ENST00000676490.1:c.289_290del
ENST00000676539.1:c.151_152del
ENST00000676551.1:n.1471_1472del
ENST00000676654.1:n.1501_1502del
ENST00000676684.1:n.1501_1502del
ENST00000676774.1:n.227_228del
ENST00000676809.1:c.1372_1373del ENSP00000504298.1:p.Val458SerfsTer18
ENST00000676912.1:c.1216_1217del ENSP00000503567.1:p.Val406SerfsTer18
ENST00000676930.1:c.1024_1025del ENSP00000502899.1:p.Val342SerfsTer18
ENST00000677435.1:c.32_33del
ENST00000677499.1:c.1372_1373del ENSP00000502875.1:p.Val458SerfsTer18
ENST00000677632.1:c.1372_1373del ENSP00000504586.1:p.Val458SerfsTer18
ENST00000677641.1:c.1372_1373del ENSP00000504637.1:p.Val458SerfsTer18
ENST00000677686.1:n.3756_3757del
ENST00000677831.1:c.1341-1523_1341-1522del ENSP00000503760.1:n.1341-1523_1341-1522del
ENST00000678180.1:c.1341-1523_1341-1522del ENSP00000504132.1:n.1341-1523_1341-1522del
ENST00000678197.1:n.1355_1356del
ENST00000678582.1:c.287_288del ENSP00000504002.1:n.287_288del
ENST00000679010.1:n.554_555del
XM_005268809.1:c.1372_1373del XP_005268866.1:p.Val458SerfsTer18
XM_005268810.1:c.1372_1373del XP_005268867.1:p.Val458SerfsTer18
XR_001748674.2:n.1486_1487del
XR_944524.1:n.1531_1532del
XR_944525.1:n.1531_1532del