Canonical Allele Identifier: CA2651114911
Gene: TBCE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.235438920dup , CM000663.2:g.235438920dup GRCh38
NC_000001.10:g.235602235dup , CM000663.1:g.235602235dup GRCh37
NC_000001.9:g.233668858dup NCBI36
NG_009230.1:g.76508dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000366601.8:c.1079dup ENSP00000355560.4:p.Lys361GlufsTer6
ENST00000406207.5:c.1268dup ENSP00000384571.1:p.Lys424GlufsTer6
ENST00000472011.6:n.1992dup
ENST00000543662.4:c.1421dup ENSP00000439170.1:p.Lys475GlufsTer6
ENST00000642339.1:c.*965dup ENSP00000495425.1:n.*965dup
ENST00000642431.1:c.1845dup
ENST00000642463.1:c.*1166dup ENSP00000495007.1:n.*1166dup
ENST00000642503.1:c.*1042dup ENSP00000494334.1:n.*1042dup
ENST00000642610.2:c.1268dup MANE Select ENSP00000494796.1:p.Lys424GlufsTer6
ENST00000642764.1:n.2099dup
ENST00000643125.1:c.*283dup ENSP00000494102.1:n.*283dup
ENST00000643142.1:c.*759dup ENSP00000494755.1:n.*759dup
ENST00000643238.1:c.*288dup ENSP00000495916.1:n.*288dup
ENST00000643410.1:c.*558dup ENSP00000495030.1:n.*558dup
ENST00000643487.1:n.1955dup
ENST00000643524.1:c.*853dup ENSP00000494026.1:n.*853dup
ENST00000643615.1:c.*1116+1446dup ENSP00000496103.1:n.*1116+1446dup
ENST00000643993.1:n.1404dup
ENST00000643994.1:c.*1268dup ENSP00000496322.1:n.*1268dup
ENST00000644037.1:c.*1478dup ENSP00000496408.1:n.*1478dup
ENST00000644055.1:c.*1893dup ENSP00000496307.1:n.*1893dup
ENST00000644126.1:n.2940dup
ENST00000644217.1:c.1268dup ENSP00000494646.1:p.Ser424GlufsTer28
ENST00000644265.1:c.637dup
ENST00000644578.1:c.1082dup ENSP00000495953.1:p.Ser362GlufsTer28
ENST00000644604.1:c.1268dup ENSP00000495961.1:p.Lys424GlufsTer6
ENST00000644680.1:c.*1789dup ENSP00000496173.1:n.*1789dup
ENST00000644838.1:c.*651dup ENSP00000495910.1:n.*651dup
ENST00000644910.1:c.1875dup
ENST00000645205.1:c.1268dup ENSP00000495823.1:p.Lys424GlufsTer6
ENST00000645351.1:c.1268dup ENSP00000494319.1:p.Lys424GlufsTer6
ENST00000645551.1:c.*985dup ENSP00000495928.1:n.*985dup
ENST00000645578.1:c.*1042dup ENSP00000496495.1:n.*1042dup
ENST00000645582.1:c.*1098dup ENSP00000494980.1:n.*1098dup
ENST00000645655.1:c.1268dup ENSP00000495202.1:p.Lys424GlufsTer6
ENST00000645836.1:c.*1042dup ENSP00000493915.1:n.*1042dup
ENST00000645899.1:c.1268dup ENSP00000496773.1:p.Lys424GlufsTer6
ENST00000645964.1:c.*1134dup ENSP00000494208.1:n.*1134dup
ENST00000646104.1:c.*1736dup ENSP00000495475.1:n.*1736dup
ENST00000646186.1:c.*940dup ENSP00000493806.1:n.*940dup
ENST00000646286.1:c.*1161dup ENSP00000494291.1:n.*1161dup
ENST00000646463.1:c.*1033dup ENSP00000494541.1:n.*1033dup
ENST00000646528.1:c.*1984dup ENSP00000496553.1:n.*1984dup
ENST00000646536.1:c.*558dup ENSP00000494801.1:n.*558dup
ENST00000646624.1:c.1268dup ENSP00000494575.1:p.Lys424GlufsTer6
ENST00000646821.1:c.*558dup ENSP00000495257.1:n.*558dup
ENST00000646842.1:n.712dup
ENST00000646848.1:c.*483dup ENSP00000495831.1:n.*483dup
ENST00000647186.1:c.1268dup ENSP00000494775.1:p.Lys424GlufsTer6
ENST00000647233.1:n.2248dup
ENST00000647322.1:c.859dup
ENST00000647418.1:c.*1042dup ENSP00000493552.1:n.*1042dup
ENST00000647428.1:c.929dup ENSP00000495630.1:p.Lys311GlufsTer6
ENST00000651186.1:c.929dup ENSP00000498645.1:p.Lys311GlufsTer6
ENST00000366601.7:c.1268dup ENSP00000355560.3:p.Lys424GlufsTer6
ENST00000406207.4:c.1268dup ENSP00000384571.1:p.Lys424GlufsTer6
ENST00000472011.5:n.1320dup
ENST00000543662.3:c.1421dup ENSP00000439170.1:p.Lys475GlufsTer6
NM_001079515.2:c.1268dup NP_001072983.1:p.Lys424GlufsTer6
NM_001287801.1:c.1421dup NP_001274730.1:p.Lys475GlufsTer6
NM_001287802.1:c.929dup NP_001274731.1:p.Lys311GlufsTer6
NM_003193.4:c.1268dup NP_003184.1:p.Lys424GlufsTer6
NM_003193.5:c.1268dup MANE Select NP_003184.1:p.Lys424GlufsTer6
NM_001079515.3:c.1268dup NP_001072983.1:p.Lys424GlufsTer6
NM_001287801.2:c.1421dup NP_001274730.1:p.Lys475GlufsTer6
NM_001287802.2:c.929dup NP_001274731.1:p.Lys311GlufsTer6