Canonical Allele Identifier: CA1097314469
Gene: TBP HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.170562000_170562017dup , CM000668.2:g.170562000_170562017dup GRCh38
NC_000006.11:g.170871088_170871105dup , CM000668.1:g.170871088_170871105dup GRCh37
NC_000006.10:g.170713013_170713030dup NCBI36
NG_008165.1:g.12618_12635dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000392092.7:c.264_281dup MANE Select ENSP00000375942.2:p.Gln94_Gln95insGlnGlnGlnGlnGlnGln
ENST00000636632.1:c.264_281dup ENSP00000490461.1:p.Gln94_Gln95insGlnGlnGlnGlnGlnGln
ENST00000230354.10:c.264_281dup ENSP00000230354.5:p.Gln94_Gln95insGlnGlnGlnGlnGlnGln
ENST00000392092.6:c.264_281dup ENSP00000375942.2:p.Gln94_Gln95insGlnGlnGlnGlnGlnGln
ENST00000421512.5:c.264_281dup ENSP00000400008.1:p.Gln94_Gln95insGlnGlnGlnGlnGlnGln
ENST00000423353.1:c.264_281dup ENSP00000416482.1:p.Gln94_Gln95insGlnGlnGlnGlnGlnGln
ENST00000540980.5:c.204_221dup ENSP00000442132.1:p.Gln74_Gln75insGlnGlnGlnGlnGlnGln
ENST00000616883.4:c.175-64_175-47dup ENSP00000484118.1:n.175-64_175-47dup
NM_001172085.1:c.204_221dup NP_001165556.1:p.Gln74_Gln75insGlnGlnGlnGlnGlnGln
NM_003194.4:c.264_281dup NP_003185.1:p.Gln94_Gln95insGlnGlnGlnGlnGlnGln
NM_003194.5:c.264_281dup MANE Select NP_003185.1:p.Gln94_Gln95insGlnGlnGlnGlnGlnGln
NM_001172085.2:c.204_221dup NP_001165556.1:p.Gln74_Gln75insGlnGlnGlnGlnGlnGln