Canonical Allele Identifier: CA2748213456

Gene: TBCE

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235438868dup , CM000663.2:g.235438868dup	GRCh38
NC_000001.10:g.235602183dup , CM000663.1:g.235602183dup	GRCh37
NC_000001.9:g.233668806dup	NCBI36
NG_009230.1:g.76456dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366601.8:c.1027dup	ENSP00000355560.4:p.Arg343LysfsTer24
ENST00000406207.5:c.1216dup	ENSP00000384571.1:p.Arg406LysfsTer24
ENST00000472011.6:n.1940dup
ENST00000543662.4:c.1369dup	ENSP00000439170.1:p.Arg457LysfsTer24
ENST00000642339.1:c.*913dup	ENSP00000495425.1:n.*913dup
ENST00000642431.1:c.1793dup
ENST00000642463.1:c.*1114dup	ENSP00000495007.1:n.*1114dup
ENST00000642503.1:c.*990dup	ENSP00000494334.1:n.*990dup
ENST00000642610.2:c.1216dup MANE Select	ENSP00000494796.1:p.Arg406LysfsTer24
ENST00000642764.1:n.2047dup
ENST00000643125.1:c.*231dup	ENSP00000494102.1:n.*231dup
ENST00000643142.1:c.*707dup	ENSP00000494755.1:n.*707dup
ENST00000643238.1:c.*236dup	ENSP00000495916.1:n.*236dup
ENST00000643410.1:c.*506dup	ENSP00000495030.1:n.*506dup
ENST00000643487.1:n.1903dup
ENST00000643524.1:c.*801dup	ENSP00000494026.1:n.*801dup
ENST00000643615.1:c.*1116+1394dup	ENSP00000496103.1:n.*1116+1394dup
ENST00000643993.1:n.1352dup
ENST00000643994.1:c.*1216dup	ENSP00000496322.1:n.*1216dup
ENST00000644037.1:c.*1426dup	ENSP00000496408.1:n.*1426dup
ENST00000644055.1:c.*1841dup	ENSP00000496307.1:n.*1841dup
ENST00000644126.1:n.2888dup
ENST00000644217.1:c.1216dup	ENSP00000494646.1:p.Arg406LysfsTer?
ENST00000644265.1:c.585dup
ENST00000644578.1:c.1030dup	ENSP00000495953.1:p.Arg344LysfsTer?
ENST00000644604.1:c.1216dup	ENSP00000495961.1:p.Arg406LysfsTer24
ENST00000644680.1:c.*1737dup	ENSP00000496173.1:n.*1737dup
ENST00000644838.1:c.*599dup	ENSP00000495910.1:n.*599dup
ENST00000644910.1:c.1823dup
ENST00000645205.1:c.1216dup	ENSP00000495823.1:p.Arg406LysfsTer24
ENST00000645351.1:c.1216dup	ENSP00000494319.1:p.Arg406LysfsTer24
ENST00000645551.1:c.*933dup	ENSP00000495928.1:n.*933dup
ENST00000645578.1:c.*990dup	ENSP00000496495.1:n.*990dup
ENST00000645582.1:c.*1046dup	ENSP00000494980.1:n.*1046dup
ENST00000645655.1:c.1216dup	ENSP00000495202.1:p.Arg406LysfsTer24
ENST00000645662.1:c.*675dup	ENSP00000495964.1:n.*675dup
ENST00000645836.1:c.*990dup	ENSP00000493915.1:n.*990dup
ENST00000645899.1:c.1216dup	ENSP00000496773.1:p.Arg406LysfsTer24
ENST00000645964.1:c.*1082dup	ENSP00000494208.1:n.*1082dup
ENST00000646104.1:c.*1684dup	ENSP00000495475.1:n.*1684dup
ENST00000646186.1:c.*888dup	ENSP00000493806.1:n.*888dup
ENST00000646286.1:c.*1109dup	ENSP00000494291.1:n.*1109dup
ENST00000646463.1:c.*981dup	ENSP00000494541.1:n.*981dup
ENST00000646528.1:c.*1932dup	ENSP00000496553.1:n.*1932dup
ENST00000646536.1:c.*506dup	ENSP00000494801.1:n.*506dup
ENST00000646624.1:c.1216dup	ENSP00000494575.1:p.Arg406LysfsTer24
ENST00000646821.1:c.*506dup	ENSP00000495257.1:n.*506dup
ENST00000646842.1:n.660dup
ENST00000646848.1:c.*431dup	ENSP00000495831.1:n.*431dup
ENST00000647186.1:c.1216dup	ENSP00000494775.1:p.Arg406LysfsTer24
ENST00000647233.1:n.2196dup
ENST00000647322.1:c.807dup
ENST00000647418.1:c.*990dup	ENSP00000493552.1:n.*990dup
ENST00000647428.1:c.877dup	ENSP00000495630.1:p.Arg293LysfsTer24
ENST00000651186.1:c.877dup	ENSP00000498645.1:p.Arg293LysfsTer24
ENST00000366601.7:c.1216dup	ENSP00000355560.3:p.Arg406LysfsTer24
ENST00000406207.4:c.1216dup	ENSP00000384571.1:p.Arg406LysfsTer24
ENST00000472011.5:n.1268dup
ENST00000543662.3:c.1369dup	ENSP00000439170.1:p.Arg457LysfsTer24
NM_001079515.2:c.1216dup	NP_001072983.1:p.Arg406LysfsTer24
NM_001287801.1:c.1369dup	NP_001274730.1:p.Arg457LysfsTer24
NM_001287802.1:c.877dup	NP_001274731.1:p.Arg293LysfsTer24
NM_003193.4:c.1216dup	NP_003184.1:p.Arg406LysfsTer24
NM_003193.5:c.1216dup MANE Select	NP_003184.1:p.Arg406LysfsTer24
NM_001079515.3:c.1216dup	NP_001072983.1:p.Arg406LysfsTer24
NM_001287801.2:c.1369dup	NP_001274730.1:p.Arg457LysfsTer24
NM_001287802.2:c.877dup	NP_001274731.1:p.Arg293LysfsTer24