Canonical Allele Identifier: CA2578803238

Gene: TBP

Linked Data

• gnomAD v4: 6-170562012-G-GCAGCAA

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.170562016_170562021dup , CM000668.2:g.170562016_170562021dup	GRCh38
NC_000006.11:g.170871104_170871109dup , CM000668.1:g.170871104_170871109dup	GRCh37
NC_000006.10:g.170713029_170713034dup	NCBI36
NG_008165.1:g.12634_12639dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392092.7:c.280_285dup MANE Select	ENSP00000375942.2:p.Gln95_Ala96insGlnGln
ENST00000636632.1:c.280_285dup	ENSP00000490461.1:p.Gln95_Ala96insGlnGln
ENST00000230354.10:c.280_285dup	ENSP00000230354.5:p.Gln95_Ala96insGlnGln
ENST00000392092.6:c.280_285dup	ENSP00000375942.2:p.Gln95_Ala96insGlnGln
ENST00000421512.5:c.280_285dup	ENSP00000400008.1:p.Gln95_Ala96insGlnGln
ENST00000423353.1:c.280_285dup	ENSP00000416482.1:p.Gln95_Ala96insGlnGln
ENST00000540980.5:c.220_225dup	ENSP00000442132.1:p.Gln75_Ala76insGlnGln
ENST00000616883.4:c.175-48_175-43dup	ENSP00000484118.1:n.175-48_175-43dup
NM_001172085.1:c.220_225dup	NP_001165556.1:p.Gln75_Ala76insGlnGln
NM_003194.4:c.280_285dup	NP_003185.1:p.Gln95_Ala96insGlnGln
NM_003194.5:c.280_285dup MANE Select	NP_003185.1:p.Gln95_Ala96insGlnGln
NM_001172085.2:c.220_225dup	NP_001165556.1:p.Gln75_Ala76insGlnGln