Canonical Allele Identifier: CA2739272138
Community Standard Title: NM_013254.4(TBK1):c.1638_1641del (p.Asp546GlufsTer3)
Gene: TBK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.64495599_64495602del , CM000674.2:g.64495599_64495602del GRCh38
NC_000012.11:g.64889379_64889382del , CM000674.1:g.64889379_64889382del GRCh37
NC_000012.10:g.63175646_63175649del NCBI36
NG_046906.1:g.48540_48543del

Transcript Alleles

HGVS Amino-acid Change
NM_013254.4:c.1638_1641del MANE Select NP_037386.1:p.Asp546GlufsTer3
ENST00000331710.10:c.1638_1641del MANE Select ENSP00000329967.5:p.Asp546GlufsTer3
NM_013254.3:c.1638_1641del NP_037386.1:p.Asp546GlufsTer3
ENST00000331710.9:c.1638_1641del ENSP00000329967.5:p.Asp546GlufsTer3
ENST00000541805.1:n.232_235del
ENST00000541805.2:n.671_674del
ENST00000545392.2:n.544_547del
ENST00000650708.1:c.1514_1517del
ENST00000650762.1:c.1380_1383del ENSP00000498758.1:p.Asp460GlufsTer3
ENST00000650786.1:c.*1783_*1786del ENSP00000498280.1:n.*1783_*1786del
ENST00000650790.1:c.1638_1641del ENSP00000498995.1:p.Asp546GlufsTer3
ENST00000650997.1:c.1638_1641del ENSP00000498341.1:p.Asp546GlufsTer3
ENST00000651014.1:c.1482_1485del ENSP00000498885.1:p.Asp494GlufsTer3
ENST00000651262.1:c.1638_1641del ENSP00000498461.1:p.Asp546GlufsTer?
ENST00000651878.1:c.*1122_*1125del ENSP00000499077.1:n.*1122_*1125del
ENST00000652537.1:c.1638_1641del ENSP00000499102.1:p.Asp546GlufsTer3
ENST00000652657.1:c.1638_1641del ENSP00000498887.1:p.Asp546GlufsTer3
ENST00000676521.1:c.117_120del ENSP00000503000.1:p.Asp39GlufsTer?
ENST00000676587.1:c.79+5480_79+5483del
ENST00000676654.1:n.1767_1770del
ENST00000676684.1:n.1767_1770del
ENST00000676809.1:c.*327_*330del ENSP00000504298.1:n.*327_*330del
ENST00000676912.1:c.1482_1485del ENSP00000503567.1:p.Asp494GlufsTer3
ENST00000676930.1:c.1290_1293del ENSP00000502899.1:p.Asp430GlufsTer3
ENST00000677435.1:c.219_222del
ENST00000677499.1:c.1638_1641del ENSP00000502875.1:p.Asp546GlufsTer3
ENST00000677632.1:c.1623_1626del ENSP00000504586.1:p.Asp541GlufsTer3
ENST00000677641.1:c.1638_1641del ENSP00000504637.1:p.Asp546GlufsTer3
ENST00000677686.1:n.4022_4025del
ENST00000677831.1:c.1536_1539del ENSP00000503760.1:p.Asp512GlufsTer3
ENST00000678180.1:c.1536_1539del ENSP00000504132.1:p.Asp512GlufsTer3
ENST00000678197.1:n.1621_1624del
ENST00000678567.1:c.188_191del
ENST00000678996.1:c.117_120del ENSP00000503169.1:p.Asp39GlufsTer27
XM_005268809.1:c.1638_1641del XP_005268866.1:p.Asp546GlufsTer3
XM_005268810.1:c.1638_1641del XP_005268867.1:p.Asp546GlufsTer3
XR_001748674.2:n.1752_1755del
XR_944524.1:n.1797_1800del
XR_944525.1:n.1797_1800del