Canonical Allele Identifier: CA2697555008

Gene: TBCE

Linked Data

• ClinVar Variation Id: 2759574
• ClinVar RCV Id: RCV003564815

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235438905del , CM000663.2:g.235438905del	GRCh38
NC_000001.10:g.235602220del , CM000663.1:g.235602220del	GRCh37
NC_000001.9:g.233668843del	NCBI36
NG_009230.1:g.76493del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366601.8:c.1064del	ENSP00000355560.4:p.Tyr355SerfsTer6
ENST00000406207.5:c.1253del	ENSP00000384571.1:p.Tyr418SerfsTer6
ENST00000472011.6:n.1977del
ENST00000543662.4:c.1406del	ENSP00000439170.1:p.Tyr469SerfsTer6
ENST00000642339.1:c.*950del	ENSP00000495425.1:n.*950del
ENST00000642431.1:c.1830del
ENST00000642463.1:c.*1151del	ENSP00000495007.1:n.*1151del
ENST00000642503.1:c.*1027del	ENSP00000494334.1:n.*1027del
ENST00000642610.2:c.1253del MANE Select	ENSP00000494796.1:p.Tyr418SerfsTer6
ENST00000642764.1:n.2084del
ENST00000643125.1:c.*268del	ENSP00000494102.1:n.*268del
ENST00000643142.1:c.*744del	ENSP00000494755.1:n.*744del
ENST00000643238.1:c.*273del	ENSP00000495916.1:n.*273del
ENST00000643410.1:c.*543del	ENSP00000495030.1:n.*543del
ENST00000643487.1:n.1940del
ENST00000643524.1:c.*838del	ENSP00000494026.1:n.*838del
ENST00000643615.1:c.*1116+1431del	ENSP00000496103.1:n.*1116+1431del
ENST00000643993.1:n.1389del
ENST00000643994.1:c.*1253del	ENSP00000496322.1:n.*1253del
ENST00000644037.1:c.*1463del	ENSP00000496408.1:n.*1463del
ENST00000644055.1:c.*1878del	ENSP00000496307.1:n.*1878del
ENST00000644126.1:n.2925del
ENST00000644217.1:c.1253del	ENSP00000494646.1:p.Tyr418SerfsTer6
ENST00000644265.1:c.622del
ENST00000644578.1:c.1067del	ENSP00000495953.1:p.Tyr356SerfsTer6
ENST00000644604.1:c.1253del	ENSP00000495961.1:p.Tyr418SerfsTer6
ENST00000644680.1:c.*1774del	ENSP00000496173.1:n.*1774del
ENST00000644838.1:c.*636del	ENSP00000495910.1:n.*636del
ENST00000644910.1:c.1860del
ENST00000645205.1:c.1253del	ENSP00000495823.1:p.Tyr418SerfsTer6
ENST00000645351.1:c.1253del	ENSP00000494319.1:p.Tyr418SerfsTer6
ENST00000645551.1:c.*970del	ENSP00000495928.1:n.*970del
ENST00000645578.1:c.*1027del	ENSP00000496495.1:n.*1027del
ENST00000645582.1:c.*1083del	ENSP00000494980.1:n.*1083del
ENST00000645655.1:c.1253del	ENSP00000495202.1:p.Tyr418SerfsTer6
ENST00000645662.1:c.*712del	ENSP00000495964.1:n.*712del
ENST00000645836.1:c.*1027del	ENSP00000493915.1:n.*1027del
ENST00000645899.1:c.1253del	ENSP00000496773.1:p.Tyr418SerfsTer6
ENST00000645964.1:c.*1119del	ENSP00000494208.1:n.*1119del
ENST00000646104.1:c.*1721del	ENSP00000495475.1:n.*1721del
ENST00000646186.1:c.*925del	ENSP00000493806.1:n.*925del
ENST00000646286.1:c.*1146del	ENSP00000494291.1:n.*1146del
ENST00000646463.1:c.*1018del	ENSP00000494541.1:n.*1018del
ENST00000646528.1:c.*1969del	ENSP00000496553.1:n.*1969del
ENST00000646536.1:c.*543del	ENSP00000494801.1:n.*543del
ENST00000646624.1:c.1253del	ENSP00000494575.1:p.Tyr418SerfsTer6
ENST00000646821.1:c.*543del	ENSP00000495257.1:n.*543del
ENST00000646842.1:n.697del
ENST00000646848.1:c.*468del	ENSP00000495831.1:n.*468del
ENST00000647186.1:c.1253del	ENSP00000494775.1:p.Tyr418SerfsTer6
ENST00000647233.1:n.2233del
ENST00000647322.1:c.844del
ENST00000647418.1:c.*1027del	ENSP00000493552.1:n.*1027del
ENST00000647428.1:c.914del	ENSP00000495630.1:p.Tyr305SerfsTer6
ENST00000651186.1:c.914del	ENSP00000498645.1:p.Tyr305SerfsTer6
ENST00000366601.7:c.1253del	ENSP00000355560.3:p.Tyr418SerfsTer6
ENST00000406207.4:c.1253del	ENSP00000384571.1:p.Tyr418SerfsTer6
ENST00000472011.5:n.1305del
ENST00000543662.3:c.1406del	ENSP00000439170.1:p.Tyr469SerfsTer6
NM_001079515.2:c.1253del	NP_001072983.1:p.Tyr418SerfsTer6
NM_001287801.1:c.1406del	NP_001274730.1:p.Tyr469SerfsTer6
NM_001287802.1:c.914del	NP_001274731.1:p.Tyr305SerfsTer6
NM_003193.4:c.1253del	NP_003184.1:p.Tyr418SerfsTer6
NM_003193.5:c.1253del MANE Select	NP_003184.1:p.Tyr418SerfsTer6
NM_001079515.3:c.1253del	NP_001072983.1:p.Tyr418SerfsTer6
NM_001287801.2:c.1406del	NP_001274730.1:p.Tyr469SerfsTer6
NM_001287802.2:c.914del	NP_001274731.1:p.Tyr305SerfsTer6