Canonical Allele Identifier: CA2573147183

Gene: TPP1

Linked Data

• ClinVar Variation Id: 1459474
• ClinVar RCV Id: RCV001959015
• dbSNP Id: rs2134590532

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614682del , CM000673.2:g.6614682del	GRCh38
NC_000011.9:g.6635913del , CM000673.1:g.6635913del	GRCh37
NC_000011.8:g.6592489del	NCBI36
NG_008653.1:g.9782del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1444del	ENSP00000507321.1:p.Arg482ValfsTer12
ENST00000299427.12:c.1558del MANE Select	ENSP00000299427.6:p.Arg520ValfsTer12
ENST00000524611.2:n.597del
ENST00000524924.2:n.678del
ENST00000533371.6:c.829del	ENSP00000437066.1:p.Arg277ValfsTer12
ENST00000642892.1:c.829del	ENSP00000494165.1:p.Arg277ValfsTer12
ENST00000643342.1:c.631del
ENST00000643439.1:c.*1298del	ENSP00000495849.1:n.*1298del
ENST00000643479.1:n.1744del
ENST00000643516.1:c.1067del
ENST00000644218.1:c.1369del	ENSP00000493574.1:p.Arg457ValfsTer12
ENST00000644683.1:c.*1011del	ENSP00000494085.1:n.*1011del
ENST00000644810.1:c.1279del	ENSP00000495895.1:p.Arg427ValfsTer12
ENST00000644831.1:n.1734del
ENST00000644933.1:c.*424del	ENSP00000496133.1:n.*424del
ENST00000645285.1:c.*424del	ENSP00000495058.1:n.*424del
ENST00000645331.1:n.2763del
ENST00000645620.1:c.829del	ENSP00000493657.1:p.Arg277ValfsTer12
ENST00000646691.1:n.1445del
ENST00000646777.1:n.1891del
ENST00000647016.1:n.2038del
ENST00000647152.1:c.829del	ENSP00000495893.1:p.Arg277ValfsTer12
ENST00000647209.1:c.*1427del	ENSP00000495558.1:n.*1427del
ENST00000647346.1:n.2578del
ENST00000299427.10:c.1558del	ENSP00000299427.6:p.Arg520ValfsTer12
ENST00000524611.1:n.436del
ENST00000533371.5:c.829del	ENSP00000437066.1:p.Arg277ValfsTer12
ENST00000611494.4:c.1558del	ENSP00000484546.1:p.Arg520ValfsTer12
NM_000391.3:c.1558del	NP_000382.3:p.Arg520ValfsTer12
NM_000391.4:c.1558del MANE Select	NP_000382.3:p.Arg520ValfsTer12