Canonical Allele Identifier: CA8118179
Gene: THAP11 HGNC NCBI
CENPT HGNC NCBI

Linked Data

ClinVar Variation Id: 1552629
ClinVar RCV Id: RCV002197067 RCV003923497
dbSNP Id: rs746671619
ExAC: 16:67876787 GCAGCAGCAA / G
gnomAD v2: 16-67876787-GCAGCAGCAA-G
gnomAD v3: 16-67842884-GCAGCAGCAA-G
gnomAD v4: 16-67842884-GCAGCAGCAA-G
COSMIC: COSM5967567
MyVariant Identifiers: chr16:g.67876797_67876805del (hg19) chr16:g.67876788_67876796del (hg19) chr16:g.67842894_67842902del (hg38) chr16:g.67842885_67842893del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67842902_67842910del , CM000678.2:g.67842902_67842910del GRCh38
NC_000016.9:g.67876805_67876813del , CM000678.1:g.67876805_67876813del GRCh37
NC_000016.8:g.66434306_66434314del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303596.3:c.348_356del (THAP11) MANE Select ENSP00000304689.1:p.Gln117_Gln119del
ENST00000562787.6:c.-492+4508_-492+4516del (CENPT) MANE Select ENSP00000457810.1:n.-492+4508_-492+4516del
ENST00000303596.2:c.348_356del (THAP11) ENSP00000304689.1:p.Gln117_Gln119del
ENST00000561593.5:c.-366+4687_-366+4695del (CENPT) ENSP00000454481.1:n.-366+4687_-366+4695del
ENST00000562787.5:c.-492+4508_-492+4516del (CENPT) ENSP00000457810.1:n.-492+4508_-492+4516del
ENST00000564144.5:n.348+65_348+73del (CENPT)
ENST00000564346.5:n.110+106_110+114del (CENPT)
ENST00000565114.5:c.-371+4687_-371+4695del (CENPT) ENSP00000455638.1:n.-371+4687_-371+4695del
ENST00000565132.5:n.52+3879_52+3887del (CENPT)
ENST00000565385.5:n.172+65_172+73del (CENPT)
ENST00000567482.5:n.260+138_260+146del (CENPT)
ENST00000567985.5:c.-371+65_-371+73del (CENPT) ENSP00000460542.1:n.-371+65_-371+73del
ENST00000568652.5:n.173+4687_173+4695del (CENPT)
ENST00000568765.5:n.232+4687_232+4695del (CENPT)
ENST00000569019.5:n.339+106_339+114del (CENPT)
ENST00000569094.5:n.176+4687_176+4695del (CENPT)
NM_020457.2:c.348_356del (THAP11) NP_065190.2:p.Gln117_Gln119del
NM_025082.3:c.-492+4508_-492+4516del (CENPT) NP_079358.3:n.-492+4508_-492+4516del
NM_025082.4:c.-492+4508_-492+4516del (CENPT) MANE Select NP_079358.3:n.-492+4508_-492+4516del
NM_020457.3:c.348_356del (THAP11) MANE Select NP_065190.2:p.Gln117_Gln119del
Search 100 bp 5'
Search 100 bp 3'