Canonical Allele Identifier: CA2486499886

Gene: TBCE

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235438834_235438835delinsAC , CM000663.2:g.235438834_235438835delinsAC	GRCh38
NC_000001.10:g.235602149_235602150delinsAC , CM000663.1:g.235602149_235602150delinsAC	GRCh37
NC_000001.9:g.233668772_233668773delinsAC	NCBI36
NG_009230.1:g.76422_76423delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366601.8:c.993_994delinsAC	ENSP00000355560.4:p.Lys331=
ENST00000406207.5:c.1182_1183delinsAC	ENSP00000384571.1:p.Lys394=
ENST00000472011.6:n.1906_1907delinsAC
ENST00000543662.4:c.1335_1336delinsAC	ENSP00000439170.1:p.Lys445=
ENST00000642339.1:c.*879_*880delinsAC	ENSP00000495425.1:n.*879_*880delinsAC
ENST00000642431.1:c.1759_1760delinsAC
ENST00000642463.1:c.*1080_*1081delinsAC	ENSP00000495007.1:n.*1080_*1081delinsAC
ENST00000642503.1:c.*956_*957delinsAC	ENSP00000494334.1:n.*956_*957delinsAC
ENST00000642610.2:c.1182_1183delinsAC MANE Select	ENSP00000494796.1:p.Lys394=
ENST00000642764.1:n.2013_2014delinsAC
ENST00000643125.1:c.*197_*198delinsAC	ENSP00000494102.1:n.*197_*198delinsAC
ENST00000643142.1:c.*673_*674delinsAC	ENSP00000494755.1:n.*673_*674delinsAC
ENST00000643238.1:c.*202_*203delinsAC	ENSP00000495916.1:n.*202_*203delinsAC
ENST00000643410.1:c.*472_*473delinsAC	ENSP00000495030.1:n.*472_*473delinsAC
ENST00000643487.1:n.1869_1870delinsAC
ENST00000643524.1:c.*767_*768delinsAC	ENSP00000494026.1:n.*767_*768delinsAC
ENST00000643615.1:c.*1116+1360_*1116+1361delinsAC	ENSP00000496103.1:n.*1116+1360_*1116+1361delinsAC
ENST00000643993.1:n.1318_1319delinsAC
ENST00000643994.1:c.*1182_*1183delinsAC	ENSP00000496322.1:n.*1182_*1183delinsAC
ENST00000644037.1:c.*1392_*1393delinsAC	ENSP00000496408.1:n.*1392_*1393delinsAC
ENST00000644055.1:c.*1807_*1808delinsAC	ENSP00000496307.1:n.*1807_*1808delinsAC
ENST00000644126.1:n.2854_2855delinsAC
ENST00000644217.1:c.1182_1183delinsAC	ENSP00000494646.1:p.Lys394=
ENST00000644265.1:c.551_552delinsAC
ENST00000644578.1:c.996_997delinsAC	ENSP00000495953.1:p.Lys332=
ENST00000644604.1:c.1182_1183delinsAC	ENSP00000495961.1:p.Lys394=
ENST00000644680.1:c.*1703_*1704delinsAC	ENSP00000496173.1:n.*1703_*1704delinsAC
ENST00000644838.1:c.*565_*566delinsAC	ENSP00000495910.1:n.*565_*566delinsAC
ENST00000644910.1:c.1789_1790delinsAC
ENST00000645205.1:c.1182_1183delinsAC	ENSP00000495823.1:p.Lys394=
ENST00000645351.1:c.1182_1183delinsAC	ENSP00000494319.1:p.Lys394=
ENST00000645551.1:c.*899_*900delinsAC	ENSP00000495928.1:n.*899_*900delinsAC
ENST00000645578.1:c.*956_*957delinsAC	ENSP00000496495.1:n.*956_*957delinsAC
ENST00000645582.1:c.*1012_*1013delinsAC	ENSP00000494980.1:n.*1012_*1013delinsAC
ENST00000645655.1:c.1182_1183delinsAC	ENSP00000495202.1:p.Lys394=
ENST00000645662.1:c.*641_*642delinsAC	ENSP00000495964.1:n.*641_*642delinsAC
ENST00000645836.1:c.*956_*957delinsAC	ENSP00000493915.1:n.*956_*957delinsAC
ENST00000645899.1:c.1182_1183delinsAC	ENSP00000496773.1:p.Lys394=
ENST00000645964.1:c.*1048_*1049delinsAC	ENSP00000494208.1:n.*1048_*1049delinsAC
ENST00000646104.1:c.*1650_*1651delinsAC	ENSP00000495475.1:n.*1650_*1651delinsAC
ENST00000646186.1:c.*854_*855delinsAC	ENSP00000493806.1:n.*854_*855delinsAC
ENST00000646286.1:c.*1075_*1076delinsAC	ENSP00000494291.1:n.*1075_*1076delinsAC
ENST00000646463.1:c.*947_*948delinsAC	ENSP00000494541.1:n.*947_*948delinsAC
ENST00000646528.1:c.*1898_*1899delinsAC	ENSP00000496553.1:n.*1898_*1899delinsAC
ENST00000646536.1:c.*472_*473delinsAC	ENSP00000494801.1:n.*472_*473delinsAC
ENST00000646624.1:c.1182_1183delinsAC	ENSP00000494575.1:p.Lys394=
ENST00000646821.1:c.*472_*473delinsAC	ENSP00000495257.1:n.*472_*473delinsAC
ENST00000646842.1:n.626_627delinsAC
ENST00000646848.1:c.*397_*398delinsAC	ENSP00000495831.1:n.*397_*398delinsAC
ENST00000647186.1:c.1182_1183delinsAC	ENSP00000494775.1:p.Lys394=
ENST00000647233.1:n.2162_2163delinsAC
ENST00000647322.1:c.773_774delinsAC
ENST00000647418.1:c.*956_*957delinsAC	ENSP00000493552.1:n.*956_*957delinsAC
ENST00000647428.1:c.843_844delinsAC	ENSP00000495630.1:p.Lys281=
ENST00000651186.1:c.843_844delinsAC	ENSP00000498645.1:p.Lys281=
ENST00000366601.7:c.1182_1183delinsAC	ENSP00000355560.3:p.Lys394=
ENST00000406207.4:c.1182_1183delinsAC	ENSP00000384571.1:p.Lys394=
ENST00000472011.5:n.1234_1235delinsAC
ENST00000543662.3:c.1335_1336delinsAC	ENSP00000439170.1:p.Lys445=
NM_001079515.2:c.1182_1183delinsAC	NP_001072983.1:p.Lys394=
NM_001287801.1:c.1335_1336delinsAC	NP_001274730.1:p.Lys445=
NM_001287802.1:c.843_844delinsAC	NP_001274731.1:p.Lys281=
NM_003193.4:c.1182_1183delinsAC	NP_003184.1:p.Lys394=
NM_003193.5:c.1182_1183delinsAC MANE Select	NP_003184.1:p.Lys394=
NM_001079515.3:c.1182_1183delinsAC	NP_001072983.1:p.Lys394=
NM_001287801.2:c.1335_1336delinsAC	NP_001274730.1:p.Lys445=
NM_001287802.2:c.843_844delinsAC	NP_001274731.1:p.Lys281=