Canonical Allele Identifier: CA4108305

Gene: TBP

Linked Data

• ClinVar Variation Id: 445790
• ClinVar RCV Id: RCV000514133
• dbSNP Id: rs752404282
• ExAC: 6:170871046 A / ACAGCAG
• gnomAD v2: 6-170871046-A-ACAGCAG
• gnomAD v3: 6-170561958-A-ACAGCAG
• gnomAD v4: 6-170561958-A-ACAGCAG
• MyVariant Identifiers: chr6:g.170871055_170871056insCAGCAG (hg19) ; chr6:g.170871052_170871053insCAGCAG (hg19) ; chr6:g.170871046_170871047insCAGCAG (hg19) ; chr6:g.170561967_170561968insCAGCAG (hg38) ; chr6:g.170561964_170561965insCAGCAG (hg38) ; chr6:g.170561958_170561959insCAGCAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.170562012_170562017dup , CM000668.2:g.170562012_170562017dup	GRCh38
NC_000006.11:g.170871100_170871105dup , CM000668.1:g.170871100_170871105dup	GRCh37
NC_000006.10:g.170713025_170713030dup	NCBI36
NG_008165.1:g.12630_12635dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392092.7:c.276_281dup MANE Select	ENSP00000375942.2:p.Gln94_Gln95insGlnGln
ENST00000636632.1:c.276_281dup	ENSP00000490461.1:p.Gln94_Gln95insGlnGln
ENST00000230354.10:c.276_281dup	ENSP00000230354.5:p.Gln94_Gln95insGlnGln
ENST00000392092.6:c.276_281dup	ENSP00000375942.2:p.Gln94_Gln95insGlnGln
ENST00000421512.5:c.276_281dup	ENSP00000400008.1:p.Gln94_Gln95insGlnGln
ENST00000423353.1:c.276_281dup	ENSP00000416482.1:p.Gln94_Gln95insGlnGln
ENST00000540980.5:c.216_221dup	ENSP00000442132.1:p.Gln74_Gln75insGlnGln
ENST00000616883.4:c.175-52_175-47dup	ENSP00000484118.1:n.175-52_175-47dup
NM_001172085.1:c.216_221dup	NP_001165556.1:p.Gln74_Gln75insGlnGln
NM_003194.4:c.276_281dup	NP_003185.1:p.Gln94_Gln95insGlnGln
NM_003194.5:c.276_281dup MANE Select	NP_003185.1:p.Gln94_Gln95insGlnGln
NM_001172085.2:c.216_221dup	NP_001165556.1:p.Gln74_Gln75insGlnGln