Canonical Allele Identifier: CA8118232
Gene: THAP11 HGNC NCBI
CENPT HGNC NCBI
ClinVar Variation:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67842945_67842950dup , CM000678.2:g.67842945_67842950dup GRCh38
NC_000016.9:g.67876848_67876853dup , CM000678.1:g.67876848_67876853dup GRCh37
NC_000016.8:g.66434349_66434354dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303596.3:c.391_396dup (THAP11) MANE Select ENSP00000304689.1:p.Gln132_Ser133insGlnGln
ENST00000562787.6:c.-492+4475_-492+4480dup (CENPT) MANE Select ENSP00000457810.1:n.-492+4475_-492+4480dup
ENST00000303596.2:c.391_396dup (THAP11) ENSP00000304689.1:p.Gln132_Ser133insGlnGln
ENST00000561593.5:c.-366+4654_-366+4659dup (CENPT) ENSP00000454481.1:n.-366+4654_-366+4659dup
ENST00000562787.5:c.-492+4475_-492+4480dup (CENPT) ENSP00000457810.1:n.-492+4475_-492+4480dup
ENST00000564144.5:n.348+32_348+37dup (CENPT)
ENST00000564346.5:n.110+73_110+78dup (CENPT)
ENST00000565114.5:c.-371+4654_-371+4659dup (CENPT) ENSP00000455638.1:n.-371+4654_-371+4659dup
ENST00000565132.5:n.52+3846_52+3851dup (CENPT)
ENST00000565385.5:n.172+32_172+37dup (CENPT)
ENST00000567482.5:n.260+105_260+110dup (CENPT)
ENST00000567985.5:c.-371+32_-371+37dup (CENPT) ENSP00000460542.1:n.-371+32_-371+37dup
ENST00000568652.5:n.173+4654_173+4659dup (CENPT)
ENST00000568765.5:n.232+4654_232+4659dup (CENPT)
ENST00000569019.5:n.339+73_339+78dup (CENPT)
ENST00000569094.5:n.176+4654_176+4659dup (CENPT)
NM_020457.2:c.391_396dup (THAP11) NP_065190.2:p.Gln132_Ser133insGlnGln
NM_025082.3:c.-492+4475_-492+4480dup (CENPT) NP_079358.3:n.-492+4475_-492+4480dup
NM_025082.4:c.-492+4475_-492+4480dup (CENPT) MANE Select NP_079358.3:n.-492+4475_-492+4480dup
NM_020457.3:c.391_396dup (THAP11) MANE Select NP_065190.2:p.Gln132_Ser133insGlnGln