Canonical Allele Identifier: CA102832175
Community Standard Title: NM_001163435.3(TBCK):c.1746_1748del (p.Phe582del)
Gene: TBCK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.106230395_106230397del , CM000666.2:g.106230395_106230397del GRCh38
NC_000004.11:g.107151552_107151554del , CM000666.1:g.107151552_107151554del GRCh37
NC_000004.10:g.107371001_107371003del NCBI36
NG_034057.2:g.96105_96107del
NG_034057.3:g.91293_91295del

Transcript Alleles

HGVS Amino-acid Change
NM_001163435.3:c.1746_1748del MANE Select NP_001156907.2:p.Phe582del
ENST00000394708.7:c.1746_1748del MANE Select ENSP00000378198.2:p.Phe582del
NM_001163435.2:c.1746_1748del NP_001156907.1:p.Phe582del
NM_001163436.2:c.1746_1748del NP_001156908.1:p.Phe582del
NM_001163436.4:c.1746_1748del NP_001156908.2:p.Phe582del
NM_001163437.2:c.1629_1631del NP_001156909.1:p.Phe543del
NM_001163437.3:c.1629_1631del NP_001156909.2:p.Phe543del
NM_001290768.1:c.1230_1232del NP_001277697.1:p.Phe410del
NM_001290768.2:c.1230_1232del NP_001277697.2:p.Phe410del
NM_033115.4:c.1557_1559del NP_149106.2:p.Phe519del
NM_033115.5:c.1557_1559del NP_149106.3:p.Phe519del
ENST00000273980.10:c.1746_1748del ENSP00000273980.4:p.Phe582del
ENST00000273980.9:c.1746_1748del ENSP00000273980.4:p.Phe582del
ENST00000361687.8:c.1557_1559del ENSP00000355338.4:p.Phe519del
ENST00000394706.7:c.1629_1631del ENSP00000378196.3:p.Phe543del
ENST00000394708.6:c.1746_1748del ENSP00000378198.2:p.Phe582del
ENST00000432496.6:c.1746_1748del ENSP00000405847.2:p.Phe582del
ENST00000467183.6:c.*1385_*1387del ENSP00000421182.1:n.*1385_*1387del
ENST00000506615.1:n.56_58del
ENST00000510927.5:n.1399_1401del
XM_006714419.2:c.1746_1748del XP_006714482.1:p.Phe582del
XM_011532417.1:c.1746_1748del XP_011530719.1:p.Phe582del
XM_011532417.2:c.1746_1748del XP_011530719.1:p.Phe582del
XM_011532418.1:c.1428_1430del XP_011530720.1:p.Phe476del
XM_011532419.1:c.1230_1232del XP_011530721.1:p.Phe410del
XM_017008846.1:c.1746_1748del XP_016864335.1:p.Phe582del
XM_017008847.2:c.1746_1748del XP_016864336.1:p.Phe582del
XM_017008848.1:c.1428_1430del XP_016864337.1:p.Phe476del
XM_017008849.1:c.1230_1232del XP_016864338.1:p.Phe410del
XM_024454281.1:c.1746_1748del XP_024310049.1:p.Phe582del
XM_024454282.1:c.1746_1748del XP_024310050.1:p.Phe582del
XR_001741353.2:n.2086_2088del
XR_001741354.2:n.1683_1685del
XR_002959772.1:n.1870_1872del
XR_938800.1:n.1775_1777del
XR_938800.3:n.2086_2088del