Canonical Allele Identifier: CA1013555291

Gene: TBCE

Linked Data

• dbSNP Id: rs1681622650
• gnomAD v3: 1-235438684-TGGAGGAA-T
• gnomAD v4: 1-235438684-TGGAGGAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235438688_235438694del , CM000663.2:g.235438688_235438694del	GRCh38
NC_000001.10:g.235602003_235602009del , CM000663.1:g.235602003_235602009del	GRCh37
NC_000001.9:g.233668626_233668632del	NCBI36
NG_009230.1:g.76276_76282del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366601.8:c.928-81_928-75del	ENSP00000355560.4:n.928-81_928-75del
ENST00000406207.5:c.1117-81_1117-75del	ENSP00000384571.1:n.1117-81_1117-75del
ENST00000472011.6:n.1841-81_1841-75del
ENST00000543662.4:c.1270-81_1270-75del	ENSP00000439170.1:n.1270-81_1270-75del
ENST00000642339.1:c.*814-81_*814-75del	ENSP00000495425.1:n.*814-81_*814-75del
ENST00000642431.1:c.1694-81_1694-75del
ENST00000642463.1:c.*1015-81_*1015-75del	ENSP00000495007.1:n.*1015-81_*1015-75del
ENST00000642503.1:c.*891-81_*891-75del	ENSP00000494334.1:n.*891-81_*891-75del
ENST00000642610.2:c.1117-81_1117-75del MANE Select	ENSP00000494796.1:n.1117-81_1117-75del
ENST00000642764.1:n.1948-81_1948-75del
ENST00000643125.1:c.*132-81_*132-75del	ENSP00000494102.1:n.*132-81_*132-75del
ENST00000643142.1:c.*608-81_*608-75del	ENSP00000494755.1:n.*608-81_*608-75del
ENST00000643238.1:c.*137-81_*137-75del	ENSP00000495916.1:n.*137-81_*137-75del
ENST00000643410.1:c.*407-81_*407-75del	ENSP00000495030.1:n.*407-81_*407-75del
ENST00000643487.1:n.1804-81_1804-75del
ENST00000643524.1:c.*702-81_*702-75del	ENSP00000494026.1:n.*702-81_*702-75del
ENST00000643615.1:c.*1116+1214_*1116+1220del	ENSP00000496103.1:n.*1116+1214_*1116+1220del
ENST00000643993.1:n.1253-81_1253-75del
ENST00000643994.1:c.*1117-81_*1117-75del	ENSP00000496322.1:n.*1117-81_*1117-75del
ENST00000644037.1:c.*1327-81_*1327-75del	ENSP00000496408.1:n.*1327-81_*1327-75del
ENST00000644055.1:c.*1742-81_*1742-75del	ENSP00000496307.1:n.*1742-81_*1742-75del
ENST00000644126.1:n.2789-81_2789-75del
ENST00000644217.1:c.1117-81_1117-75del	ENSP00000494646.1:n.1117-81_1117-75del
ENST00000644265.1:c.486-81_486-75del
ENST00000644578.1:c.931-81_931-75del	ENSP00000495953.1:n.931-81_931-75del
ENST00000644604.1:c.1117-81_1117-75del	ENSP00000495961.1:n.1117-81_1117-75del
ENST00000644680.1:c.*1638-81_*1638-75del	ENSP00000496173.1:n.*1638-81_*1638-75del
ENST00000644838.1:c.*500-81_*500-75del	ENSP00000495910.1:n.*500-81_*500-75del
ENST00000644910.1:c.1724-81_1724-75del
ENST00000645205.1:c.1117-81_1117-75del	ENSP00000495823.1:n.1117-81_1117-75del
ENST00000645351.1:c.1117-81_1117-75del	ENSP00000494319.1:n.1117-81_1117-75del
ENST00000645551.1:c.*834-81_*834-75del	ENSP00000495928.1:n.*834-81_*834-75del
ENST00000645578.1:c.*891-81_*891-75del	ENSP00000496495.1:n.*891-81_*891-75del
ENST00000645582.1:c.*947-81_*947-75del	ENSP00000494980.1:n.*947-81_*947-75del
ENST00000645655.1:c.1117-81_1117-75del	ENSP00000495202.1:n.1117-81_1117-75del
ENST00000645662.1:c.*576-81_*576-75del	ENSP00000495964.1:n.*576-81_*576-75del
ENST00000645836.1:c.*891-81_*891-75del	ENSP00000493915.1:n.*891-81_*891-75del
ENST00000645899.1:c.1117-81_1117-75del	ENSP00000496773.1:n.1117-81_1117-75del
ENST00000645964.1:c.*983-81_*983-75del	ENSP00000494208.1:n.*983-81_*983-75del
ENST00000646104.1:c.*1585-81_*1585-75del	ENSP00000495475.1:n.*1585-81_*1585-75del
ENST00000646186.1:c.*789-81_*789-75del	ENSP00000493806.1:n.*789-81_*789-75del
ENST00000646286.1:c.*1010-81_*1010-75del	ENSP00000494291.1:n.*1010-81_*1010-75del
ENST00000646463.1:c.*882-81_*882-75del	ENSP00000494541.1:n.*882-81_*882-75del
ENST00000646528.1:c.*1833-81_*1833-75del	ENSP00000496553.1:n.*1833-81_*1833-75del
ENST00000646536.1:c.*407-81_*407-75del	ENSP00000494801.1:n.*407-81_*407-75del
ENST00000646624.1:c.1117-81_1117-75del	ENSP00000494575.1:n.1117-81_1117-75del
ENST00000646821.1:c.*407-81_*407-75del	ENSP00000495257.1:n.*407-81_*407-75del
ENST00000646842.1:n.561-81_561-75del
ENST00000646848.1:c.*332-81_*332-75del	ENSP00000495831.1:n.*332-81_*332-75del
ENST00000647186.1:c.1117-81_1117-75del	ENSP00000494775.1:n.1117-81_1117-75del
ENST00000647233.1:n.2097-81_2097-75del
ENST00000647322.1:c.708-81_708-75del
ENST00000647418.1:c.*891-81_*891-75del	ENSP00000493552.1:n.*891-81_*891-75del
ENST00000647428.1:c.778-81_778-75del	ENSP00000495630.1:n.778-81_778-75del
ENST00000651186.1:c.778-81_778-75del	ENSP00000498645.1:n.778-81_778-75del
ENST00000366601.7:c.1117-81_1117-75del	ENSP00000355560.3:n.1117-81_1117-75del
ENST00000406207.4:c.1117-81_1117-75del	ENSP00000384571.1:n.1117-81_1117-75del
ENST00000472011.5:n.1169-81_1169-75del
ENST00000543662.3:c.1270-81_1270-75del	ENSP00000439170.1:n.1270-81_1270-75del
NM_001079515.2:c.1117-81_1117-75del	NP_001072983.1:n.1117-81_1117-75del
NM_001287801.1:c.1270-81_1270-75del	NP_001274730.1:n.1270-81_1270-75del
NM_001287802.1:c.778-81_778-75del	NP_001274731.1:n.778-81_778-75del
NM_003193.4:c.1117-81_1117-75del	NP_003184.1:n.1117-81_1117-75del
NM_003193.5:c.1117-81_1117-75del MANE Select	NP_003184.1:n.1117-81_1117-75del
NM_001079515.3:c.1117-81_1117-75del	NP_001072983.1:n.1117-81_1117-75del
NM_001287801.2:c.1270-81_1270-75del	NP_001274730.1:n.1270-81_1270-75del
NM_001287802.2:c.778-81_778-75del	NP_001274731.1:n.778-81_778-75del