Canonical Allele Identifier: CA2651114887

Gene: TBCE

Linked Data

• gnomAD v4: 1-235438809-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235438813del , CM000663.2:g.235438813del	GRCh38
NC_000001.10:g.235602128del , CM000663.1:g.235602128del	GRCh37
NC_000001.9:g.233668751del	NCBI36
NG_009230.1:g.76401del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366601.8:c.972del	ENSP00000355560.4:p.Ala325LeufsTer?
ENST00000406207.5:c.1161del	ENSP00000384571.1:p.Ala388LeufsTer?
ENST00000472011.6:n.1885del
ENST00000543662.4:c.1314del	ENSP00000439170.1:p.Ala439LeufsTer?
ENST00000642339.1:c.*858del	ENSP00000495425.1:n.*858del
ENST00000642431.1:c.1738del
ENST00000642463.1:c.*1059del	ENSP00000495007.1:n.*1059del
ENST00000642503.1:c.*935del	ENSP00000494334.1:n.*935del
ENST00000642610.2:c.1161del MANE Select	ENSP00000494796.1:p.Ala388LeufsTer?
ENST00000642764.1:n.1992del
ENST00000643125.1:c.*176del	ENSP00000494102.1:n.*176del
ENST00000643142.1:c.*652del	ENSP00000494755.1:n.*652del
ENST00000643238.1:c.*181del	ENSP00000495916.1:n.*181del
ENST00000643410.1:c.*451del	ENSP00000495030.1:n.*451del
ENST00000643487.1:n.1848del
ENST00000643524.1:c.*746del	ENSP00000494026.1:n.*746del
ENST00000643615.1:c.*1116+1339del	ENSP00000496103.1:n.*1116+1339del
ENST00000643993.1:n.1297del
ENST00000643994.1:c.*1161del	ENSP00000496322.1:n.*1161del
ENST00000644037.1:c.*1371del	ENSP00000496408.1:n.*1371del
ENST00000644055.1:c.*1786del	ENSP00000496307.1:n.*1786del
ENST00000644126.1:n.2833del
ENST00000644217.1:c.1161del	ENSP00000494646.1:p.Ala388LeufsTer?
ENST00000644265.1:c.530del
ENST00000644578.1:c.975del	ENSP00000495953.1:p.Ala326LeufsTer?
ENST00000644604.1:c.1161del	ENSP00000495961.1:p.Ala388LeufsTer?
ENST00000644680.1:c.*1682del	ENSP00000496173.1:n.*1682del
ENST00000644838.1:c.*544del	ENSP00000495910.1:n.*544del
ENST00000644910.1:c.1768del
ENST00000645205.1:c.1161del	ENSP00000495823.1:p.Ala388LeufsTer?
ENST00000645351.1:c.1161del	ENSP00000494319.1:p.Ala388LeufsTer?
ENST00000645551.1:c.*878del	ENSP00000495928.1:n.*878del
ENST00000645578.1:c.*935del	ENSP00000496495.1:n.*935del
ENST00000645582.1:c.*991del	ENSP00000494980.1:n.*991del
ENST00000645655.1:c.1161del	ENSP00000495202.1:p.Ala388LeufsTer?
ENST00000645662.1:c.*620del	ENSP00000495964.1:n.*620del
ENST00000645836.1:c.*935del	ENSP00000493915.1:n.*935del
ENST00000645899.1:c.1161del	ENSP00000496773.1:p.Ala388LeufsTer?
ENST00000645964.1:c.*1027del	ENSP00000494208.1:n.*1027del
ENST00000646104.1:c.*1629del	ENSP00000495475.1:n.*1629del
ENST00000646186.1:c.*833del	ENSP00000493806.1:n.*833del
ENST00000646286.1:c.*1054del	ENSP00000494291.1:n.*1054del
ENST00000646463.1:c.*926del	ENSP00000494541.1:n.*926del
ENST00000646528.1:c.*1877del	ENSP00000496553.1:n.*1877del
ENST00000646536.1:c.*451del	ENSP00000494801.1:n.*451del
ENST00000646624.1:c.1161del	ENSP00000494575.1:p.Ala388LeufsTer?
ENST00000646821.1:c.*451del	ENSP00000495257.1:n.*451del
ENST00000646842.1:n.605del
ENST00000646848.1:c.*376del	ENSP00000495831.1:n.*376del
ENST00000647186.1:c.1161del	ENSP00000494775.1:p.Ala388LeufsTer?
ENST00000647233.1:n.2141del
ENST00000647322.1:c.752del
ENST00000647418.1:c.*935del	ENSP00000493552.1:n.*935del
ENST00000647428.1:c.822del	ENSP00000495630.1:p.Ala275LeufsTer?
ENST00000651186.1:c.822del	ENSP00000498645.1:p.Ala275LeufsTer?
ENST00000366601.7:c.1161del	ENSP00000355560.3:p.Ala388LeufsTer?
ENST00000406207.4:c.1161del	ENSP00000384571.1:p.Ala388LeufsTer?
ENST00000472011.5:n.1213del
ENST00000543662.3:c.1314del	ENSP00000439170.1:p.Ala439LeufsTer?
NM_001079515.2:c.1161del	NP_001072983.1:p.Ala388LeufsTer?
NM_001287801.1:c.1314del	NP_001274730.1:p.Ala439LeufsTer?
NM_001287802.1:c.822del	NP_001274731.1:p.Ala275LeufsTer?
NM_003193.4:c.1161del	NP_003184.1:p.Ala388LeufsTer?
NM_003193.5:c.1161del MANE Select	NP_003184.1:p.Ala388LeufsTer?
NM_001079515.3:c.1161del	NP_001072983.1:p.Ala388LeufsTer?
NM_001287801.2:c.1314del	NP_001274730.1:p.Ala439LeufsTer?
NM_001287802.2:c.822del	NP_001274731.1:p.Ala275LeufsTer?