Canonical Allele Identifier: CA1148882349

Gene: TBCE

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235438860_235438866delinsAAAAAAA , CM000663.2:g.235438860_235438866delinsAAAAAAA	GRCh38
NC_000001.10:g.235602175_235602181delinsAAAAAAA , CM000663.1:g.235602175_235602181delinsAAAAAAA	GRCh37
NC_000001.9:g.233668798_233668804delinsAAAAAAA	NCBI36
NG_009230.1:g.76448_76454delinsAAAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366601.8:c.1019_1025delinsAAAAAAA	ENSP00000355560.4:p.Glu340=
ENST00000406207.5:c.1208_1214delinsAAAAAAA	ENSP00000384571.1:p.Glu403=
ENST00000472011.6:n.1932_1938delinsAAAAAAA
ENST00000543662.4:c.1361_1367delinsAAAAAAA	ENSP00000439170.1:p.Glu454=
ENST00000642339.1:c.*905_*911delinsAAAAAAA	ENSP00000495425.1:n.*905_*911delinsAAAAAAA
ENST00000642431.1:c.1785_1791delinsAAAAAAA
ENST00000642463.1:c.*1106_*1112delinsAAAAAAA	ENSP00000495007.1:n.*1106_*1112delinsAAAAAAA
ENST00000642503.1:c.*982_*988delinsAAAAAAA	ENSP00000494334.1:n.*982_*988delinsAAAAAAA
ENST00000642610.2:c.1208_1214delinsAAAAAAA MANE Select	ENSP00000494796.1:p.Glu403=
ENST00000642764.1:n.2039_2045delinsAAAAAAA
ENST00000643125.1:c.*223_*229delinsAAAAAAA	ENSP00000494102.1:n.*223_*229delinsAAAAAAA
ENST00000643142.1:c.*699_*705delinsAAAAAAA	ENSP00000494755.1:n.*699_*705delinsAAAAAAA
ENST00000643238.1:c.*228_*234delinsAAAAAAA	ENSP00000495916.1:n.*228_*234delinsAAAAAAA
ENST00000643410.1:c.*498_*504delinsAAAAAAA	ENSP00000495030.1:n.*498_*504delinsAAAAAAA
ENST00000643487.1:n.1895_1901delinsAAAAAAA
ENST00000643524.1:c.*793_*799delinsAAAAAAA	ENSP00000494026.1:n.*793_*799delinsAAAAAAA
ENST00000643615.1:c.*1116+1386_*1116+1392delinsAAAAAAA	ENSP00000496103.1:n.*1116+1386_*1116+1392delinsAAAAAAA
ENST00000643993.1:n.1344_1350delinsAAAAAAA
ENST00000643994.1:c.*1208_*1214delinsAAAAAAA	ENSP00000496322.1:n.*1208_*1214delinsAAAAAAA
ENST00000644037.1:c.*1418_*1424delinsAAAAAAA	ENSP00000496408.1:n.*1418_*1424delinsAAAAAAA
ENST00000644055.1:c.*1833_*1839delinsAAAAAAA	ENSP00000496307.1:n.*1833_*1839delinsAAAAAAA
ENST00000644126.1:n.2880_2886delinsAAAAAAA
ENST00000644217.1:c.1208_1214delinsAAAAAAA	ENSP00000494646.1:p.Glu403=
ENST00000644265.1:c.577_583delinsAAAAAAA
ENST00000644578.1:c.1022_1028delinsAAAAAAA	ENSP00000495953.1:p.Glu341=
ENST00000644604.1:c.1208_1214delinsAAAAAAA	ENSP00000495961.1:p.Glu403=
ENST00000644680.1:c.*1729_*1735delinsAAAAAAA	ENSP00000496173.1:n.*1729_*1735delinsAAAAAAA
ENST00000644838.1:c.*591_*597delinsAAAAAAA	ENSP00000495910.1:n.*591_*597delinsAAAAAAA
ENST00000644910.1:c.1815_1821delinsAAAAAAA
ENST00000645205.1:c.1208_1214delinsAAAAAAA	ENSP00000495823.1:p.Glu403=
ENST00000645351.1:c.1208_1214delinsAAAAAAA	ENSP00000494319.1:p.Glu403=
ENST00000645551.1:c.*925_*931delinsAAAAAAA	ENSP00000495928.1:n.*925_*931delinsAAAAAAA
ENST00000645578.1:c.*982_*988delinsAAAAAAA	ENSP00000496495.1:n.*982_*988delinsAAAAAAA
ENST00000645582.1:c.*1038_*1044delinsAAAAAAA	ENSP00000494980.1:n.*1038_*1044delinsAAAAAAA
ENST00000645655.1:c.1208_1214delinsAAAAAAA	ENSP00000495202.1:p.Glu403=
ENST00000645662.1:c.*667_*673delinsAAAAAAA	ENSP00000495964.1:n.*667_*673delinsAAAAAAA
ENST00000645836.1:c.*982_*988delinsAAAAAAA	ENSP00000493915.1:n.*982_*988delinsAAAAAAA
ENST00000645899.1:c.1208_1214delinsAAAAAAA	ENSP00000496773.1:p.Glu403=
ENST00000645964.1:c.*1074_*1080delinsAAAAAAA	ENSP00000494208.1:n.*1074_*1080delinsAAAAAAA
ENST00000646104.1:c.*1676_*1682delinsAAAAAAA	ENSP00000495475.1:n.*1676_*1682delinsAAAAAAA
ENST00000646186.1:c.*880_*886delinsAAAAAAA	ENSP00000493806.1:n.*880_*886delinsAAAAAAA
ENST00000646286.1:c.*1101_*1107delinsAAAAAAA	ENSP00000494291.1:n.*1101_*1107delinsAAAAAAA
ENST00000646463.1:c.*973_*979delinsAAAAAAA	ENSP00000494541.1:n.*973_*979delinsAAAAAAA
ENST00000646528.1:c.*1924_*1930delinsAAAAAAA	ENSP00000496553.1:n.*1924_*1930delinsAAAAAAA
ENST00000646536.1:c.*498_*504delinsAAAAAAA	ENSP00000494801.1:n.*498_*504delinsAAAAAAA
ENST00000646624.1:c.1208_1214delinsAAAAAAA	ENSP00000494575.1:p.Glu403=
ENST00000646821.1:c.*498_*504delinsAAAAAAA	ENSP00000495257.1:n.*498_*504delinsAAAAAAA
ENST00000646842.1:n.652_658delinsAAAAAAA
ENST00000646848.1:c.*423_*429delinsAAAAAAA	ENSP00000495831.1:n.*423_*429delinsAAAAAAA
ENST00000647186.1:c.1208_1214delinsAAAAAAA	ENSP00000494775.1:p.Glu403=
ENST00000647233.1:n.2188_2194delinsAAAAAAA
ENST00000647322.1:c.799_805delinsAAAAAAA
ENST00000647418.1:c.*982_*988delinsAAAAAAA	ENSP00000493552.1:n.*982_*988delinsAAAAAAA
ENST00000647428.1:c.869_875delinsAAAAAAA	ENSP00000495630.1:p.Glu290=
ENST00000651186.1:c.869_875delinsAAAAAAA	ENSP00000498645.1:p.Glu290=
ENST00000366601.7:c.1208_1214delinsAAAAAAA	ENSP00000355560.3:p.Glu403=
ENST00000406207.4:c.1208_1214delinsAAAAAAA	ENSP00000384571.1:p.Glu403=
ENST00000472011.5:n.1260_1266delinsAAAAAAA
ENST00000543662.3:c.1361_1367delinsAAAAAAA	ENSP00000439170.1:p.Glu454=
NM_001079515.2:c.1208_1214delinsAAAAAAA	NP_001072983.1:p.Glu403=
NM_001287801.1:c.1361_1367delinsAAAAAAA	NP_001274730.1:p.Glu454=
NM_001287802.1:c.869_875delinsAAAAAAA	NP_001274731.1:p.Glu290=
NM_003193.4:c.1208_1214delinsAAAAAAA	NP_003184.1:p.Glu403=
NM_003193.5:c.1208_1214delinsAAAAAAA MANE Select	NP_003184.1:p.Glu403=
NM_001079515.3:c.1208_1214delinsAAAAAAA	NP_001072983.1:p.Glu403=
NM_001287801.2:c.1361_1367delinsAAAAAAA	NP_001274730.1:p.Glu454=
NM_001287802.2:c.869_875delinsAAAAAAA	NP_001274731.1:p.Glu290=