Canonical Allele Identifier: CA2651114909

Gene: TBCE

Linked Data

• gnomAD v4: 1-235438867-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235438869_235438870del , CM000663.2:g.235438869_235438870del	GRCh38
NC_000001.10:g.235602184_235602185del , CM000663.1:g.235602184_235602185del	GRCh37
NC_000001.9:g.233668807_233668808del	NCBI36
NG_009230.1:g.76457_76458del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366601.8:c.1028_1029del	ENSP00000355560.4:p.Arg343ThrfsTer23
ENST00000406207.5:c.1217_1218del	ENSP00000384571.1:p.Arg406ThrfsTer23
ENST00000472011.6:n.1941_1942del
ENST00000543662.4:c.1370_1371del	ENSP00000439170.1:p.Arg457ThrfsTer23
ENST00000642339.1:c.*914_*915del	ENSP00000495425.1:n.*914_*915del
ENST00000642431.1:c.1794_1795del
ENST00000642463.1:c.*1115_*1116del	ENSP00000495007.1:n.*1115_*1116del
ENST00000642503.1:c.*991_*992del	ENSP00000494334.1:n.*991_*992del
ENST00000642610.2:c.1217_1218del MANE Select	ENSP00000494796.1:p.Arg406ThrfsTer23
ENST00000642764.1:n.2048_2049del
ENST00000643125.1:c.*232_*233del	ENSP00000494102.1:n.*232_*233del
ENST00000643142.1:c.*708_*709del	ENSP00000494755.1:n.*708_*709del
ENST00000643238.1:c.*237_*238del	ENSP00000495916.1:n.*237_*238del
ENST00000643410.1:c.*507_*508del	ENSP00000495030.1:n.*507_*508del
ENST00000643487.1:n.1904_1905del
ENST00000643524.1:c.*802_*803del	ENSP00000494026.1:n.*802_*803del
ENST00000643615.1:c.*1116+1395_*1116+1396del	ENSP00000496103.1:n.*1116+1395_*1116+1396del
ENST00000643993.1:n.1353_1354del
ENST00000643994.1:c.*1217_*1218del	ENSP00000496322.1:n.*1217_*1218del
ENST00000644037.1:c.*1427_*1428del	ENSP00000496408.1:n.*1427_*1428del
ENST00000644055.1:c.*1842_*1843del	ENSP00000496307.1:n.*1842_*1843del
ENST00000644126.1:n.2889_2890del
ENST00000644217.1:c.1217_1218del	ENSP00000494646.1:p.Arg406ThrfsTer?
ENST00000644265.1:c.586_587del
ENST00000644578.1:c.1031_1032del	ENSP00000495953.1:p.Arg344ThrfsTer?
ENST00000644604.1:c.1217_1218del	ENSP00000495961.1:p.Arg406ThrfsTer23
ENST00000644680.1:c.*1738_*1739del	ENSP00000496173.1:n.*1738_*1739del
ENST00000644838.1:c.*600_*601del	ENSP00000495910.1:n.*600_*601del
ENST00000644910.1:c.1824_1825del
ENST00000645205.1:c.1217_1218del	ENSP00000495823.1:p.Arg406ThrfsTer23
ENST00000645351.1:c.1217_1218del	ENSP00000494319.1:p.Arg406ThrfsTer23
ENST00000645551.1:c.*934_*935del	ENSP00000495928.1:n.*934_*935del
ENST00000645578.1:c.*991_*992del	ENSP00000496495.1:n.*991_*992del
ENST00000645582.1:c.*1047_*1048del	ENSP00000494980.1:n.*1047_*1048del
ENST00000645655.1:c.1217_1218del	ENSP00000495202.1:p.Arg406ThrfsTer23
ENST00000645662.1:c.*676_*677del	ENSP00000495964.1:n.*676_*677del
ENST00000645836.1:c.*991_*992del	ENSP00000493915.1:n.*991_*992del
ENST00000645899.1:c.1217_1218del	ENSP00000496773.1:p.Arg406ThrfsTer23
ENST00000645964.1:c.*1083_*1084del	ENSP00000494208.1:n.*1083_*1084del
ENST00000646104.1:c.*1685_*1686del	ENSP00000495475.1:n.*1685_*1686del
ENST00000646186.1:c.*889_*890del	ENSP00000493806.1:n.*889_*890del
ENST00000646286.1:c.*1110_*1111del	ENSP00000494291.1:n.*1110_*1111del
ENST00000646463.1:c.*982_*983del	ENSP00000494541.1:n.*982_*983del
ENST00000646528.1:c.*1933_*1934del	ENSP00000496553.1:n.*1933_*1934del
ENST00000646536.1:c.*507_*508del	ENSP00000494801.1:n.*507_*508del
ENST00000646624.1:c.1217_1218del	ENSP00000494575.1:p.Arg406ThrfsTer23
ENST00000646821.1:c.*507_*508del	ENSP00000495257.1:n.*507_*508del
ENST00000646842.1:n.661_662del
ENST00000646848.1:c.*432_*433del	ENSP00000495831.1:n.*432_*433del
ENST00000647186.1:c.1217_1218del	ENSP00000494775.1:p.Arg406ThrfsTer23
ENST00000647233.1:n.2197_2198del
ENST00000647322.1:c.808_809del
ENST00000647418.1:c.*991_*992del	ENSP00000493552.1:n.*991_*992del
ENST00000647428.1:c.878_879del	ENSP00000495630.1:p.Arg293ThrfsTer23
ENST00000651186.1:c.878_879del	ENSP00000498645.1:p.Arg293ThrfsTer23
ENST00000366601.7:c.1217_1218del	ENSP00000355560.3:p.Arg406ThrfsTer23
ENST00000406207.4:c.1217_1218del	ENSP00000384571.1:p.Arg406ThrfsTer23
ENST00000472011.5:n.1269_1270del
ENST00000543662.3:c.1370_1371del	ENSP00000439170.1:p.Arg457ThrfsTer23
NM_001079515.2:c.1217_1218del	NP_001072983.1:p.Arg406ThrfsTer23
NM_001287801.1:c.1370_1371del	NP_001274730.1:p.Arg457ThrfsTer23
NM_001287802.1:c.878_879del	NP_001274731.1:p.Arg293ThrfsTer23
NM_003193.4:c.1217_1218del	NP_003184.1:p.Arg406ThrfsTer23
NM_003193.5:c.1217_1218del MANE Select	NP_003184.1:p.Arg406ThrfsTer23
NM_001079515.3:c.1217_1218del	NP_001072983.1:p.Arg406ThrfsTer23
NM_001287801.2:c.1370_1371del	NP_001274730.1:p.Arg457ThrfsTer23
NM_001287802.2:c.878_879del	NP_001274731.1:p.Arg293ThrfsTer23