Canonical Allele Identifier: CA529650528

Gene: TBCE

Linked Data

• dbSNP Id: rs1374607841
• gnomAD v2: 1-235602048-T-TAA
• gnomAD v4: 1-235438733-T-TAA
• MyVariant Identifiers: chr1:g.235602048_235602049insAA (hg19) ; chr1:g.235438733_235438734insAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235438733_235438734insAA , CM000663.2:g.235438733_235438734insAA	GRCh38
NC_000001.10:g.235602048_235602049insAA , CM000663.1:g.235602048_235602049insAA	GRCh37
NC_000001.9:g.233668671_233668672insAA	NCBI36
NG_009230.1:g.76321_76322insAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366601.8:c.928-36_928-35insAA	ENSP00000355560.4:n.928-36_928-35insAA
ENST00000406207.5:c.1117-36_1117-35insAA	ENSP00000384571.1:n.1117-36_1117-35insAA
ENST00000472011.6:n.1841-36_1841-35insAA
ENST00000543662.4:c.1270-36_1270-35insAA	ENSP00000439170.1:n.1270-36_1270-35insAA
ENST00000642339.1:c.*814-36_*814-35insAA	ENSP00000495425.1:n.*814-36_*814-35insAA
ENST00000642431.1:c.1694-36_1694-35insAA
ENST00000642463.1:c.*1015-36_*1015-35insAA	ENSP00000495007.1:n.*1015-36_*1015-35insAA
ENST00000642503.1:c.*891-36_*891-35insAA	ENSP00000494334.1:n.*891-36_*891-35insAA
ENST00000642610.2:c.1117-36_1117-35insAA MANE Select	ENSP00000494796.1:n.1117-36_1117-35insAA
ENST00000642764.1:n.1948-36_1948-35insAA
ENST00000643125.1:c.*132-36_*132-35insAA	ENSP00000494102.1:n.*132-36_*132-35insAA
ENST00000643142.1:c.*608-36_*608-35insAA	ENSP00000494755.1:n.*608-36_*608-35insAA
ENST00000643238.1:c.*137-36_*137-35insAA	ENSP00000495916.1:n.*137-36_*137-35insAA
ENST00000643410.1:c.*407-36_*407-35insAA	ENSP00000495030.1:n.*407-36_*407-35insAA
ENST00000643487.1:n.1804-36_1804-35insAA
ENST00000643524.1:c.*702-36_*702-35insAA	ENSP00000494026.1:n.*702-36_*702-35insAA
ENST00000643615.1:c.*1116+1259_*1116+1260insAA	ENSP00000496103.1:n.*1116+1259_*1116+1260insAA
ENST00000643993.1:n.1253-36_1253-35insAA
ENST00000643994.1:c.*1117-36_*1117-35insAA	ENSP00000496322.1:n.*1117-36_*1117-35insAA
ENST00000644037.1:c.*1327-36_*1327-35insAA	ENSP00000496408.1:n.*1327-36_*1327-35insAA
ENST00000644055.1:c.*1742-36_*1742-35insAA	ENSP00000496307.1:n.*1742-36_*1742-35insAA
ENST00000644126.1:n.2789-36_2789-35insAA
ENST00000644217.1:c.1117-36_1117-35insAA	ENSP00000494646.1:n.1117-36_1117-35insAA
ENST00000644265.1:c.486-36_486-35insAA
ENST00000644578.1:c.931-36_931-35insAA	ENSP00000495953.1:n.931-36_931-35insAA
ENST00000644604.1:c.1117-36_1117-35insAA	ENSP00000495961.1:n.1117-36_1117-35insAA
ENST00000644680.1:c.*1638-36_*1638-35insAA	ENSP00000496173.1:n.*1638-36_*1638-35insAA
ENST00000644838.1:c.*500-36_*500-35insAA	ENSP00000495910.1:n.*500-36_*500-35insAA
ENST00000644910.1:c.1724-36_1724-35insAA
ENST00000645205.1:c.1117-36_1117-35insAA	ENSP00000495823.1:n.1117-36_1117-35insAA
ENST00000645351.1:c.1117-36_1117-35insAA	ENSP00000494319.1:n.1117-36_1117-35insAA
ENST00000645551.1:c.*834-36_*834-35insAA	ENSP00000495928.1:n.*834-36_*834-35insAA
ENST00000645578.1:c.*891-36_*891-35insAA	ENSP00000496495.1:n.*891-36_*891-35insAA
ENST00000645582.1:c.*947-36_*947-35insAA	ENSP00000494980.1:n.*947-36_*947-35insAA
ENST00000645655.1:c.1117-36_1117-35insAA	ENSP00000495202.1:n.1117-36_1117-35insAA
ENST00000645662.1:c.*576-36_*576-35insAA	ENSP00000495964.1:n.*576-36_*576-35insAA
ENST00000645836.1:c.*891-36_*891-35insAA	ENSP00000493915.1:n.*891-36_*891-35insAA
ENST00000645899.1:c.1117-36_1117-35insAA	ENSP00000496773.1:n.1117-36_1117-35insAA
ENST00000645964.1:c.*983-36_*983-35insAA	ENSP00000494208.1:n.*983-36_*983-35insAA
ENST00000646104.1:c.*1585-36_*1585-35insAA	ENSP00000495475.1:n.*1585-36_*1585-35insAA
ENST00000646186.1:c.*789-36_*789-35insAA	ENSP00000493806.1:n.*789-36_*789-35insAA
ENST00000646286.1:c.*1010-36_*1010-35insAA	ENSP00000494291.1:n.*1010-36_*1010-35insAA
ENST00000646463.1:c.*882-36_*882-35insAA	ENSP00000494541.1:n.*882-36_*882-35insAA
ENST00000646528.1:c.*1833-36_*1833-35insAA	ENSP00000496553.1:n.*1833-36_*1833-35insAA
ENST00000646536.1:c.*407-36_*407-35insAA	ENSP00000494801.1:n.*407-36_*407-35insAA
ENST00000646624.1:c.1117-36_1117-35insAA	ENSP00000494575.1:n.1117-36_1117-35insAA
ENST00000646821.1:c.*407-36_*407-35insAA	ENSP00000495257.1:n.*407-36_*407-35insAA
ENST00000646842.1:n.561-36_561-35insAA
ENST00000646848.1:c.*332-36_*332-35insAA	ENSP00000495831.1:n.*332-36_*332-35insAA
ENST00000647186.1:c.1117-36_1117-35insAA	ENSP00000494775.1:n.1117-36_1117-35insAA
ENST00000647233.1:n.2097-36_2097-35insAA
ENST00000647322.1:c.708-36_708-35insAA
ENST00000647418.1:c.*891-36_*891-35insAA	ENSP00000493552.1:n.*891-36_*891-35insAA
ENST00000647428.1:c.778-36_778-35insAA	ENSP00000495630.1:n.778-36_778-35insAA
ENST00000651186.1:c.778-36_778-35insAA	ENSP00000498645.1:n.778-36_778-35insAA
ENST00000366601.7:c.1117-36_1117-35insAA	ENSP00000355560.3:n.1117-36_1117-35insAA
ENST00000406207.4:c.1117-36_1117-35insAA	ENSP00000384571.1:n.1117-36_1117-35insAA
ENST00000472011.5:n.1169-36_1169-35insAA
ENST00000543662.3:c.1270-36_1270-35insAA	ENSP00000439170.1:n.1270-36_1270-35insAA
NM_001079515.2:c.1117-36_1117-35insAA	NP_001072983.1:n.1117-36_1117-35insAA
NM_001287801.1:c.1270-36_1270-35insAA	NP_001274730.1:n.1270-36_1270-35insAA
NM_001287802.1:c.778-36_778-35insAA	NP_001274731.1:n.778-36_778-35insAA
NM_003193.4:c.1117-36_1117-35insAA	NP_003184.1:n.1117-36_1117-35insAA
NM_003193.5:c.1117-36_1117-35insAA MANE Select	NP_003184.1:n.1117-36_1117-35insAA
NM_001079515.3:c.1117-36_1117-35insAA	NP_001072983.1:n.1117-36_1117-35insAA
NM_001287801.2:c.1270-36_1270-35insAA	NP_001274730.1:n.1270-36_1270-35insAA
NM_001287802.2:c.778-36_778-35insAA	NP_001274731.1:n.778-36_778-35insAA