Canonical Allele Identifier: CA8118233

Gene: THAP11 CENPT

Linked Data

• ClinVar Variation Id: 1587439
• ClinVar RCV Id: RCV002103288
• dbSNP Id: rs377516180
• ExAC: 16:67876823 ACAGCAGCAG / A
• gnomAD v3: 16-67842920-ACAGCAGCAG-A
• gnomAD v4: 16-67842920-ACAGCAGCAG-A
• MyVariant Identifiers: chr16:g.67876824_67876832del (hg19) ; chr16:g.67842921_67842929del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67842942_67842950del , CM000678.2:g.67842942_67842950del	GRCh38
NC_000016.9:g.67876845_67876853del , CM000678.1:g.67876845_67876853del	GRCh37
NC_000016.8:g.66434346_66434354del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303596.3:c.388_396del (THAP11) MANE Select	ENSP00000304689.1:p.Gln130_Gln132del
ENST00000562787.6:c.-492+4472_-492+4480del (CENPT) MANE Select	ENSP00000457810.1:n.-492+4472_-492+4480del
ENST00000303596.2:c.388_396del (THAP11)	ENSP00000304689.1:p.Gln130_Gln132del
ENST00000561593.5:c.-366+4651_-366+4659del (CENPT)	ENSP00000454481.1:n.-366+4651_-366+4659del
ENST00000562787.5:c.-492+4472_-492+4480del (CENPT)	ENSP00000457810.1:n.-492+4472_-492+4480del
ENST00000564144.5:n.348+29_348+37del (CENPT)
ENST00000564346.5:n.110+70_110+78del (CENPT)
ENST00000565114.5:c.-371+4651_-371+4659del (CENPT)	ENSP00000455638.1:n.-371+4651_-371+4659del
ENST00000565132.5:n.52+3843_52+3851del (CENPT)
ENST00000565385.5:n.172+29_172+37del (CENPT)
ENST00000567482.5:n.260+102_260+110del (CENPT)
ENST00000567985.5:c.-371+29_-371+37del (CENPT)	ENSP00000460542.1:n.-371+29_-371+37del
ENST00000568652.5:n.173+4651_173+4659del (CENPT)
ENST00000568765.5:n.232+4651_232+4659del (CENPT)
ENST00000569019.5:n.339+70_339+78del (CENPT)
ENST00000569094.5:n.176+4651_176+4659del (CENPT)
NM_020457.2:c.388_396del (THAP11)	NP_065190.2:p.Gln130_Gln132del
NM_025082.3:c.-492+4472_-492+4480del (CENPT)	NP_079358.3:n.-492+4472_-492+4480del
NM_025082.4:c.-492+4472_-492+4480del (CENPT) MANE Select	NP_079358.3:n.-492+4472_-492+4480del
NM_020457.3:c.388_396del (THAP11) MANE Select	NP_065190.2:p.Gln130_Gln132del