Canonical Allele Identifier: CA529650533

Gene: TBCE

Linked Data

• ClinVar Variation Id: 3000673
• ClinVar RCV Id: RCV003859832
• dbSNP Id: rs1303235274
• gnomAD v2: 1-235602149-AC-A
• gnomAD v4: 1-235438834-AC-A
• MyVariant Identifiers: chr1:g.235602150del (hg19) ; chr1:g.235438835del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235438835del , CM000663.2:g.235438835del	GRCh38
NC_000001.10:g.235602150del , CM000663.1:g.235602150del	GRCh37
NC_000001.9:g.233668773del	NCBI36
NG_009230.1:g.76423del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366601.8:c.994del	ENSP00000355560.4:p.Gln332ArgfsTer29
ENST00000406207.5:c.1183del	ENSP00000384571.1:p.Gln395ArgfsTer29
ENST00000472011.6:n.1907del
ENST00000543662.4:c.1336del	ENSP00000439170.1:p.Gln446ArgfsTer29
ENST00000642339.1:c.*880del	ENSP00000495425.1:n.*880del
ENST00000642431.1:c.1760del
ENST00000642463.1:c.*1081del	ENSP00000495007.1:n.*1081del
ENST00000642503.1:c.*957del	ENSP00000494334.1:n.*957del
ENST00000642610.2:c.1183del MANE Select	ENSP00000494796.1:p.Gln395ArgfsTer29
ENST00000642764.1:n.2014del
ENST00000643125.1:c.*198del	ENSP00000494102.1:n.*198del
ENST00000643142.1:c.*674del	ENSP00000494755.1:n.*674del
ENST00000643238.1:c.*203del	ENSP00000495916.1:n.*203del
ENST00000643410.1:c.*473del	ENSP00000495030.1:n.*473del
ENST00000643487.1:n.1870del
ENST00000643524.1:c.*768del	ENSP00000494026.1:n.*768del
ENST00000643615.1:c.*1116+1361del	ENSP00000496103.1:n.*1116+1361del
ENST00000643993.1:n.1319del
ENST00000643994.1:c.*1183del	ENSP00000496322.1:n.*1183del
ENST00000644037.1:c.*1393del	ENSP00000496408.1:n.*1393del
ENST00000644055.1:c.*1808del	ENSP00000496307.1:n.*1808del
ENST00000644126.1:n.2855del
ENST00000644217.1:c.1183del	ENSP00000494646.1:p.Gln395ArgfsTer29
ENST00000644265.1:c.552del
ENST00000644578.1:c.997del	ENSP00000495953.1:p.Gln333ArgfsTer29
ENST00000644604.1:c.1183del	ENSP00000495961.1:p.Gln395ArgfsTer29
ENST00000644680.1:c.*1704del	ENSP00000496173.1:n.*1704del
ENST00000644838.1:c.*566del	ENSP00000495910.1:n.*566del
ENST00000644910.1:c.1790del
ENST00000645205.1:c.1183del	ENSP00000495823.1:p.Gln395ArgfsTer29
ENST00000645351.1:c.1183del	ENSP00000494319.1:p.Gln395ArgfsTer29
ENST00000645551.1:c.*900del	ENSP00000495928.1:n.*900del
ENST00000645578.1:c.*957del	ENSP00000496495.1:n.*957del
ENST00000645582.1:c.*1013del	ENSP00000494980.1:n.*1013del
ENST00000645655.1:c.1183del	ENSP00000495202.1:p.Gln395ArgfsTer29
ENST00000645662.1:c.*642del	ENSP00000495964.1:n.*642del
ENST00000645836.1:c.*957del	ENSP00000493915.1:n.*957del
ENST00000645899.1:c.1183del	ENSP00000496773.1:p.Gln395ArgfsTer29
ENST00000645964.1:c.*1049del	ENSP00000494208.1:n.*1049del
ENST00000646104.1:c.*1651del	ENSP00000495475.1:n.*1651del
ENST00000646186.1:c.*855del	ENSP00000493806.1:n.*855del
ENST00000646286.1:c.*1076del	ENSP00000494291.1:n.*1076del
ENST00000646463.1:c.*948del	ENSP00000494541.1:n.*948del
ENST00000646528.1:c.*1899del	ENSP00000496553.1:n.*1899del
ENST00000646536.1:c.*473del	ENSP00000494801.1:n.*473del
ENST00000646624.1:c.1183del	ENSP00000494575.1:p.Gln395ArgfsTer29
ENST00000646821.1:c.*473del	ENSP00000495257.1:n.*473del
ENST00000646842.1:n.627del
ENST00000646848.1:c.*398del	ENSP00000495831.1:n.*398del
ENST00000647186.1:c.1183del	ENSP00000494775.1:p.Gln395ArgfsTer29
ENST00000647233.1:n.2163del
ENST00000647322.1:c.774del
ENST00000647418.1:c.*957del	ENSP00000493552.1:n.*957del
ENST00000647428.1:c.844del	ENSP00000495630.1:p.Gln282ArgfsTer29
ENST00000651186.1:c.844del	ENSP00000498645.1:p.Gln282ArgfsTer29
ENST00000366601.7:c.1183del	ENSP00000355560.3:p.Gln395ArgfsTer29
ENST00000406207.4:c.1183del	ENSP00000384571.1:p.Gln395ArgfsTer29
ENST00000472011.5:n.1235del
ENST00000543662.3:c.1336del	ENSP00000439170.1:p.Gln446ArgfsTer29
NM_001079515.2:c.1183del	NP_001072983.1:p.Gln395ArgfsTer29
NM_001287801.1:c.1336del	NP_001274730.1:p.Gln446ArgfsTer29
NM_001287802.1:c.844del	NP_001274731.1:p.Gln282ArgfsTer29
NM_003193.4:c.1183del	NP_003184.1:p.Gln395ArgfsTer29
NM_003193.5:c.1183del MANE Select	NP_003184.1:p.Gln395ArgfsTer29
NM_001079515.3:c.1183del	NP_001072983.1:p.Gln395ArgfsTer29
NM_001287801.2:c.1336del	NP_001274730.1:p.Gln446ArgfsTer29
NM_001287802.2:c.844del	NP_001274731.1:p.Gln282ArgfsTer29