Canonical Allele Identifier: CA623121737
Gene: THAP11 HGNC NCBI
CENPT HGNC NCBI
ClinVar Variation:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67842914_67842919dup , CM000678.2:g.67842914_67842919dup GRCh38
NC_000016.9:g.67876817_67876822dup , CM000678.1:g.67876817_67876822dup GRCh37
NC_000016.8:g.66434318_66434323dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303596.3:c.360_365dup (THAP11) MANE Select ENSP00000304689.1:p.Gln122_Gln123insGlnGln
ENST00000562787.6:c.-492+4493_-492+4498dup (CENPT) MANE Select ENSP00000457810.1:n.-492+4493_-492+4498dup
ENST00000303596.2:c.360_365dup (THAP11) ENSP00000304689.1:p.Gln122_Gln123insGlnGln
ENST00000561593.5:c.-366+4672_-366+4677dup (CENPT) ENSP00000454481.1:n.-366+4672_-366+4677dup
ENST00000562787.5:c.-492+4493_-492+4498dup (CENPT) ENSP00000457810.1:n.-492+4493_-492+4498dup
ENST00000564144.5:n.348+50_348+55dup (CENPT)
ENST00000564346.5:n.110+91_110+96dup (CENPT)
ENST00000565114.5:c.-371+4672_-371+4677dup (CENPT) ENSP00000455638.1:n.-371+4672_-371+4677dup
ENST00000565132.5:n.52+3864_52+3869dup (CENPT)
ENST00000565385.5:n.172+50_172+55dup (CENPT)
ENST00000567482.5:n.260+123_260+128dup (CENPT)
ENST00000567985.5:c.-371+50_-371+55dup (CENPT) ENSP00000460542.1:n.-371+50_-371+55dup
ENST00000568652.5:n.173+4672_173+4677dup (CENPT)
ENST00000568765.5:n.232+4672_232+4677dup (CENPT)
ENST00000569019.5:n.339+91_339+96dup (CENPT)
ENST00000569094.5:n.176+4672_176+4677dup (CENPT)
NM_020457.2:c.360_365dup (THAP11) NP_065190.2:p.Gln122_Gln123insGlnGln
NM_025082.3:c.-492+4493_-492+4498dup (CENPT) NP_079358.3:n.-492+4493_-492+4498dup
NM_025082.4:c.-492+4493_-492+4498dup (CENPT) MANE Select NP_079358.3:n.-492+4493_-492+4498dup
NM_020457.3:c.360_365dup (THAP11) MANE Select NP_065190.2:p.Gln122_Gln123insGlnGln