Canonical Allele Identifier: CA623121749
Gene: THAP11 HGNC NCBI
CENPT HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67842946_67842947insACAGCA , CM000678.2:g.67842946_67842947insACAGCA GRCh38
NC_000016.9:g.67876849_67876850insACAGCA , CM000678.1:g.67876849_67876850insACAGCA GRCh37
NC_000016.8:g.66434350_66434351insACAGCA NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303596.3:c.392_393insACAGCA (THAP11) MANE Select ENSP00000304689.1:p.Gln131_Gln132insGlnGln
ENST00000562787.6:c.-492+4459_-492+4460insTTGCTG (CENPT) MANE Select ENSP00000457810.1:n.-492+4459_-492+4460insTTGCTG
ENST00000303596.2:c.392_393insACAGCA (THAP11) ENSP00000304689.1:p.Gln131_Gln132insGlnGln
ENST00000561593.5:c.-366+4638_-366+4639insTTGCTG (CENPT) ENSP00000454481.1:n.-366+4638_-366+4639insTTGCTG
ENST00000562787.5:c.-492+4459_-492+4460insTTGCTG (CENPT) ENSP00000457810.1:n.-492+4459_-492+4460insTTGCTG
ENST00000564144.5:n.348+16_348+17insTTGCTG (CENPT)
ENST00000564346.5:n.110+57_110+58insTTGCTG (CENPT)
ENST00000565114.5:c.-371+4638_-371+4639insTTGCTG (CENPT) ENSP00000455638.1:n.-371+4638_-371+4639insTTGCTG
ENST00000565132.5:n.52+3830_52+3831insTTGCTG (CENPT)
ENST00000565385.5:n.172+16_172+17insTTGCTG (CENPT)
ENST00000567482.5:n.260+89_260+90insTTGCTG (CENPT)
ENST00000567985.5:c.-371+16_-371+17insTTGCTG (CENPT) ENSP00000460542.1:n.-371+16_-371+17insTTGCTG
ENST00000568652.5:n.173+4638_173+4639insTTGCTG (CENPT)
ENST00000568765.5:n.232+4638_232+4639insTTGCTG (CENPT)
ENST00000569019.5:n.339+57_339+58insTTGCTG (CENPT)
ENST00000569094.5:n.176+4638_176+4639insTTGCTG (CENPT)
NM_020457.2:c.392_393insACAGCA (THAP11) NP_065190.2:p.Gln131_Gln132insGlnGln
NM_025082.3:c.-492+4459_-492+4460insTTGCTG (CENPT) NP_079358.3:n.-492+4459_-492+4460insTTGCTG
NM_025082.4:c.-492+4459_-492+4460insTTGCTG (CENPT) MANE Select NP_079358.3:n.-492+4459_-492+4460insTTGCTG
NM_020457.3:c.392_393insACAGCA (THAP11) MANE Select NP_065190.2:p.Gln131_Gln132insGlnGln