Canonical Allele Identifier: CA645522029
Gene: TBCK HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.106230388del , CM000666.2:g.106230388del GRCh38
NC_000004.11:g.107151545del , CM000666.1:g.107151545del GRCh37
NC_000004.10:g.107370994del NCBI36
NG_034057.2:g.96111del
NG_034057.3:g.91299del

Transcript Alleles

HGVS Amino-acid Change
ENST00000273980.10:c.1752del ENSP00000273980.4:p.Asp585ThrfsTer5
ENST00000394708.7:c.1752del MANE Select ENSP00000378198.2:p.Asp585ThrfsTer5
ENST00000273980.9:c.1752del ENSP00000273980.4:p.Asp585ThrfsTer5
ENST00000361687.8:c.1563del ENSP00000355338.4:p.Asp522ThrfsTer5
ENST00000394706.7:c.1635del ENSP00000378196.3:p.Asp546ThrfsTer5
ENST00000394708.6:c.1752del ENSP00000378198.2:p.Asp585ThrfsTer5
ENST00000432496.6:c.1752del ENSP00000405847.2:p.Asp585ThrfsTer5
ENST00000467183.6:c.*1391del ENSP00000421182.1:n.*1391del
ENST00000506615.1:n.62del
ENST00000510927.5:n.1405del
NM_001163435.2:c.1752del NP_001156907.1:p.Asp585ThrfsTer5
NM_001163436.2:c.1752del NP_001156908.1:p.Asp585ThrfsTer5
NM_001163437.2:c.1635del NP_001156909.1:p.Asp546ThrfsTer5
NM_001290768.1:c.1236del NP_001277697.1:p.Asp413ThrfsTer5
NM_033115.4:c.1563del NP_149106.2:p.Asp522ThrfsTer5
XM_006714419.2:c.1752del XP_006714482.1:p.Asp585ThrfsTer5
XM_011532417.1:c.1752del XP_011530719.1:p.Asp585ThrfsTer5
XM_011532418.1:c.1434del XP_011530720.1:p.Asp479ThrfsTer5
XM_011532419.1:c.1236del XP_011530721.1:p.Asp413ThrfsTer5
XR_938800.1:n.1781del
XM_011532417.2:c.1752del XP_011530719.1:p.Asp585ThrfsTer5
XM_017008846.1:c.1752del XP_016864335.1:p.Asp585ThrfsTer5
XM_017008847.2:c.1752del XP_016864336.1:p.Asp585ThrfsTer5
XM_017008848.1:c.1434del XP_016864337.1:p.Asp479ThrfsTer5
XM_017008849.1:c.1236del XP_016864338.1:p.Asp413ThrfsTer5
XM_024454281.1:c.1752del XP_024310049.1:p.Asp585ThrfsTer5
XM_024454282.1:c.1752del XP_024310050.1:p.Asp585ThrfsTer5
XR_001741353.2:n.2092del
XR_001741354.2:n.1689del
XR_002959772.1:n.1876del
XR_938800.3:n.2092del
NM_001163435.3:c.1752del MANE Select NP_001156907.2:p.Asp585ThrfsTer5
NM_001163436.4:c.1752del NP_001156908.2:p.Asp585ThrfsTer5
NM_001163437.3:c.1635del NP_001156909.2:p.Asp546ThrfsTer5
NM_001290768.2:c.1236del NP_001277697.2:p.Asp413ThrfsTer5
NM_033115.5:c.1563del NP_149106.3:p.Asp522ThrfsTer5