Canonical Allele Identifier: CA2651114894

Gene: TBCE

Linked Data

• gnomAD v4: 1-235438825-TGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235438827_235438828del , CM000663.2:g.235438827_235438828del	GRCh38
NC_000001.10:g.235602142_235602143del , CM000663.1:g.235602142_235602143del	GRCh37
NC_000001.9:g.233668765_233668766del	NCBI36
NG_009230.1:g.76415_76416del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366601.8:c.986_987del	ENSP00000355560.4:p.Glu329ValfsTer8
ENST00000406207.5:c.1175_1176del	ENSP00000384571.1:p.Glu392ValfsTer8
ENST00000472011.6:n.1899_1900del
ENST00000543662.4:c.1328_1329del	ENSP00000439170.1:p.Glu443ValfsTer8
ENST00000642339.1:c.*872_*873del	ENSP00000495425.1:n.*872_*873del
ENST00000642431.1:c.1752_1753del
ENST00000642463.1:c.*1073_*1074del	ENSP00000495007.1:n.*1073_*1074del
ENST00000642503.1:c.*949_*950del	ENSP00000494334.1:n.*949_*950del
ENST00000642610.2:c.1175_1176del MANE Select	ENSP00000494796.1:p.Glu392ValfsTer8
ENST00000642764.1:n.2006_2007del
ENST00000643125.1:c.*190_*191del	ENSP00000494102.1:n.*190_*191del
ENST00000643142.1:c.*666_*667del	ENSP00000494755.1:n.*666_*667del
ENST00000643238.1:c.*195_*196del	ENSP00000495916.1:n.*195_*196del
ENST00000643410.1:c.*465_*466del	ENSP00000495030.1:n.*465_*466del
ENST00000643487.1:n.1862_1863del
ENST00000643524.1:c.*760_*761del	ENSP00000494026.1:n.*760_*761del
ENST00000643615.1:c.*1116+1353_*1116+1354del	ENSP00000496103.1:n.*1116+1353_*1116+1354del
ENST00000643993.1:n.1311_1312del
ENST00000643994.1:c.*1175_*1176del	ENSP00000496322.1:n.*1175_*1176del
ENST00000644037.1:c.*1385_*1386del	ENSP00000496408.1:n.*1385_*1386del
ENST00000644055.1:c.*1800_*1801del	ENSP00000496307.1:n.*1800_*1801del
ENST00000644126.1:n.2847_2848del
ENST00000644217.1:c.1175_1176del	ENSP00000494646.1:p.Glu392ValfsTer8
ENST00000644265.1:c.544_545del
ENST00000644578.1:c.989_990del	ENSP00000495953.1:p.Glu330ValfsTer8
ENST00000644604.1:c.1175_1176del	ENSP00000495961.1:p.Glu392ValfsTer8
ENST00000644680.1:c.*1696_*1697del	ENSP00000496173.1:n.*1696_*1697del
ENST00000644838.1:c.*558_*559del	ENSP00000495910.1:n.*558_*559del
ENST00000644910.1:c.1782_1783del
ENST00000645205.1:c.1175_1176del	ENSP00000495823.1:p.Glu392ValfsTer8
ENST00000645351.1:c.1175_1176del	ENSP00000494319.1:p.Glu392ValfsTer8
ENST00000645551.1:c.*892_*893del	ENSP00000495928.1:n.*892_*893del
ENST00000645578.1:c.*949_*950del	ENSP00000496495.1:n.*949_*950del
ENST00000645582.1:c.*1005_*1006del	ENSP00000494980.1:n.*1005_*1006del
ENST00000645655.1:c.1175_1176del	ENSP00000495202.1:p.Glu392ValfsTer8
ENST00000645662.1:c.*634_*635del	ENSP00000495964.1:n.*634_*635del
ENST00000645836.1:c.*949_*950del	ENSP00000493915.1:n.*949_*950del
ENST00000645899.1:c.1175_1176del	ENSP00000496773.1:p.Glu392ValfsTer8
ENST00000645964.1:c.*1041_*1042del	ENSP00000494208.1:n.*1041_*1042del
ENST00000646104.1:c.*1643_*1644del	ENSP00000495475.1:n.*1643_*1644del
ENST00000646186.1:c.*847_*848del	ENSP00000493806.1:n.*847_*848del
ENST00000646286.1:c.*1068_*1069del	ENSP00000494291.1:n.*1068_*1069del
ENST00000646463.1:c.*940_*941del	ENSP00000494541.1:n.*940_*941del
ENST00000646528.1:c.*1891_*1892del	ENSP00000496553.1:n.*1891_*1892del
ENST00000646536.1:c.*465_*466del	ENSP00000494801.1:n.*465_*466del
ENST00000646624.1:c.1175_1176del	ENSP00000494575.1:p.Glu392ValfsTer8
ENST00000646821.1:c.*465_*466del	ENSP00000495257.1:n.*465_*466del
ENST00000646842.1:n.619_620del
ENST00000646848.1:c.*390_*391del	ENSP00000495831.1:n.*390_*391del
ENST00000647186.1:c.1175_1176del	ENSP00000494775.1:p.Glu392ValfsTer8
ENST00000647233.1:n.2155_2156del
ENST00000647322.1:c.766_767del
ENST00000647418.1:c.*949_*950del	ENSP00000493552.1:n.*949_*950del
ENST00000647428.1:c.836_837del	ENSP00000495630.1:p.Glu279ValfsTer8
ENST00000651186.1:c.836_837del	ENSP00000498645.1:p.Glu279ValfsTer8
ENST00000366601.7:c.1175_1176del	ENSP00000355560.3:p.Glu392ValfsTer8
ENST00000406207.4:c.1175_1176del	ENSP00000384571.1:p.Glu392ValfsTer8
ENST00000472011.5:n.1227_1228del
ENST00000543662.3:c.1328_1329del	ENSP00000439170.1:p.Glu443ValfsTer8
NM_001079515.2:c.1175_1176del	NP_001072983.1:p.Glu392ValfsTer8
NM_001287801.1:c.1328_1329del	NP_001274730.1:p.Glu443ValfsTer8
NM_001287802.1:c.836_837del	NP_001274731.1:p.Glu279ValfsTer8
NM_003193.4:c.1175_1176del	NP_003184.1:p.Glu392ValfsTer8
NM_003193.5:c.1175_1176del MANE Select	NP_003184.1:p.Glu392ValfsTer8
NM_001079515.3:c.1175_1176del	NP_001072983.1:p.Glu392ValfsTer8
NM_001287801.2:c.1328_1329del	NP_001274730.1:p.Glu443ValfsTer8
NM_001287802.2:c.836_837del	NP_001274731.1:p.Glu279ValfsTer8