Canonical Allele Identifier: CA2748213461

Gene: TBCE

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235438868_235438869insACCAAACACACCC , CM000663.2:g.235438868_235438869insACCAAACACACCC	GRCh38
NC_000001.10:g.235602183_235602184insACCAAACACACCC , CM000663.1:g.235602183_235602184insACCAAACACACCC	GRCh37
NC_000001.9:g.233668806_233668807insACCAAACACACCC	NCBI36
NG_009230.1:g.76456_76457insACCAAACACACCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366601.8:c.1027_1028insACCAAACACACCC	ENSP00000355560.4:p.Arg343AsnfsTer28
ENST00000406207.5:c.1216_1217insACCAAACACACCC	ENSP00000384571.1:p.Arg406AsnfsTer28
ENST00000472011.6:n.1940_1941insACCAAACACACCC
ENST00000543662.4:c.1369_1370insACCAAACACACCC	ENSP00000439170.1:p.Arg457AsnfsTer28
ENST00000642339.1:c.*913_*914insACCAAACACACCC	ENSP00000495425.1:n.*913_*914insACCAAACACACCC
ENST00000642431.1:c.1793_1794insACCAAACACACCC
ENST00000642463.1:c.*1114_*1115insACCAAACACACCC	ENSP00000495007.1:n.*1114_*1115insACCAAACACACCC
ENST00000642503.1:c.*990_*991insACCAAACACACCC	ENSP00000494334.1:n.*990_*991insACCAAACACACCC
ENST00000642610.2:c.1216_1217insACCAAACACACCC MANE Select	ENSP00000494796.1:p.Arg406AsnfsTer28
ENST00000642764.1:n.2047_2048insACCAAACACACCC
ENST00000643125.1:c.*231_*232insACCAAACACACCC	ENSP00000494102.1:n.*231_*232insACCAAACACACCC
ENST00000643142.1:c.*707_*708insACCAAACACACCC	ENSP00000494755.1:n.*707_*708insACCAAACACACCC
ENST00000643238.1:c.*236_*237insACCAAACACACCC	ENSP00000495916.1:n.*236_*237insACCAAACACACCC
ENST00000643410.1:c.*506_*507insACCAAACACACCC	ENSP00000495030.1:n.*506_*507insACCAAACACACCC
ENST00000643487.1:n.1903_1904insACCAAACACACCC
ENST00000643524.1:c.*801_*802insACCAAACACACCC	ENSP00000494026.1:n.*801_*802insACCAAACACACCC
ENST00000643615.1:c.*1116+1394_*1116+1395insACCAAACACACCC	ENSP00000496103.1:n.*1116+1394_*1116+1395insACCAAACACACCC
ENST00000643993.1:n.1352_1353insACCAAACACACCC
ENST00000643994.1:c.*1216_*1217insACCAAACACACCC	ENSP00000496322.1:n.*1216_*1217insACCAAACACACCC
ENST00000644037.1:c.*1426_*1427insACCAAACACACCC	ENSP00000496408.1:n.*1426_*1427insACCAAACACACCC
ENST00000644055.1:c.*1841_*1842insACCAAACACACCC	ENSP00000496307.1:n.*1841_*1842insACCAAACACACCC
ENST00000644126.1:n.2888_2889insACCAAACACACCC
ENST00000644217.1:c.1216_1217insACCAAACACACCC	ENSP00000494646.1:p.Arg406AsnfsTer?
ENST00000644265.1:c.585_586insACCAAACACACCC
ENST00000644578.1:c.1030_1031insACCAAACACACCC	ENSP00000495953.1:p.Arg344AsnfsTer?
ENST00000644604.1:c.1216_1217insACCAAACACACCC	ENSP00000495961.1:p.Arg406AsnfsTer28
ENST00000644680.1:c.*1737_*1738insACCAAACACACCC	ENSP00000496173.1:n.*1737_*1738insACCAAACACACCC
ENST00000644838.1:c.*599_*600insACCAAACACACCC	ENSP00000495910.1:n.*599_*600insACCAAACACACCC
ENST00000644910.1:c.1823_1824insACCAAACACACCC
ENST00000645205.1:c.1216_1217insACCAAACACACCC	ENSP00000495823.1:p.Arg406AsnfsTer28
ENST00000645351.1:c.1216_1217insACCAAACACACCC	ENSP00000494319.1:p.Arg406AsnfsTer28
ENST00000645551.1:c.*933_*934insACCAAACACACCC	ENSP00000495928.1:n.*933_*934insACCAAACACACCC
ENST00000645578.1:c.*990_*991insACCAAACACACCC	ENSP00000496495.1:n.*990_*991insACCAAACACACCC
ENST00000645582.1:c.*1046_*1047insACCAAACACACCC	ENSP00000494980.1:n.*1046_*1047insACCAAACACACCC
ENST00000645655.1:c.1216_1217insACCAAACACACCC	ENSP00000495202.1:p.Arg406AsnfsTer28
ENST00000645662.1:c.*675_*676insACCAAACACACCC	ENSP00000495964.1:n.*675_*676insACCAAACACACCC
ENST00000645836.1:c.*990_*991insACCAAACACACCC	ENSP00000493915.1:n.*990_*991insACCAAACACACCC
ENST00000645899.1:c.1216_1217insACCAAACACACCC	ENSP00000496773.1:p.Arg406AsnfsTer28
ENST00000645964.1:c.*1082_*1083insACCAAACACACCC	ENSP00000494208.1:n.*1082_*1083insACCAAACACACCC
ENST00000646104.1:c.*1684_*1685insACCAAACACACCC	ENSP00000495475.1:n.*1684_*1685insACCAAACACACCC
ENST00000646186.1:c.*888_*889insACCAAACACACCC	ENSP00000493806.1:n.*888_*889insACCAAACACACCC
ENST00000646286.1:c.*1109_*1110insACCAAACACACCC	ENSP00000494291.1:n.*1109_*1110insACCAAACACACCC
ENST00000646463.1:c.*981_*982insACCAAACACACCC	ENSP00000494541.1:n.*981_*982insACCAAACACACCC
ENST00000646528.1:c.*1932_*1933insACCAAACACACCC	ENSP00000496553.1:n.*1932_*1933insACCAAACACACCC
ENST00000646536.1:c.*506_*507insACCAAACACACCC	ENSP00000494801.1:n.*506_*507insACCAAACACACCC
ENST00000646624.1:c.1216_1217insACCAAACACACCC	ENSP00000494575.1:p.Arg406AsnfsTer28
ENST00000646821.1:c.*506_*507insACCAAACACACCC	ENSP00000495257.1:n.*506_*507insACCAAACACACCC
ENST00000646842.1:n.660_661insACCAAACACACCC
ENST00000646848.1:c.*431_*432insACCAAACACACCC	ENSP00000495831.1:n.*431_*432insACCAAACACACCC
ENST00000647186.1:c.1216_1217insACCAAACACACCC	ENSP00000494775.1:p.Arg406AsnfsTer28
ENST00000647233.1:n.2196_2197insACCAAACACACCC
ENST00000647322.1:c.807_808insACCAAACACACCC
ENST00000647418.1:c.*990_*991insACCAAACACACCC	ENSP00000493552.1:n.*990_*991insACCAAACACACCC
ENST00000647428.1:c.877_878insACCAAACACACCC	ENSP00000495630.1:p.Arg293AsnfsTer28
ENST00000651186.1:c.877_878insACCAAACACACCC	ENSP00000498645.1:p.Arg293AsnfsTer28
ENST00000366601.7:c.1216_1217insACCAAACACACCC	ENSP00000355560.3:p.Arg406AsnfsTer28
ENST00000406207.4:c.1216_1217insACCAAACACACCC	ENSP00000384571.1:p.Arg406AsnfsTer28
ENST00000472011.5:n.1268_1269insACCAAACACACCC
ENST00000543662.3:c.1369_1370insACCAAACACACCC	ENSP00000439170.1:p.Arg457AsnfsTer28
NM_001079515.2:c.1216_1217insACCAAACACACCC	NP_001072983.1:p.Arg406AsnfsTer28
NM_001287801.1:c.1369_1370insACCAAACACACCC	NP_001274730.1:p.Arg457AsnfsTer28
NM_001287802.1:c.877_878insACCAAACACACCC	NP_001274731.1:p.Arg293AsnfsTer28
NM_003193.4:c.1216_1217insACCAAACACACCC	NP_003184.1:p.Arg406AsnfsTer28
NM_003193.5:c.1216_1217insACCAAACACACCC MANE Select	NP_003184.1:p.Arg406AsnfsTer28
NM_001079515.3:c.1216_1217insACCAAACACACCC	NP_001072983.1:p.Arg406AsnfsTer28
NM_001287801.2:c.1369_1370insACCAAACACACCC	NP_001274730.1:p.Arg457AsnfsTer28
NM_001287802.2:c.877_878insACCAAACACACCC	NP_001274731.1:p.Arg293AsnfsTer28