Canonical Allele Identifier: CA16619376
Gene: TPP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 419346
ClinVar RCV Id: RCV000480719
dbSNP Id: rs1064793806

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6617732del , CM000673.2:g.6617732del GRCh38
NC_000011.9:g.6638963del , CM000673.1:g.6638963del GRCh37
NC_000011.8:g.6595539del NCBI36
NG_008653.1:g.6730del

Transcript Alleles

HGVS Amino-acid change
ENST00000682424.1:c.160del ENSP00000507321.1:p.Ser54ProfsTer3
ENST00000299427.12:c.274del MANE Select ENSP00000299427.6:p.Ser92ProfsTer3
ENST00000428886.7:n.362del
ENST00000436873.7:c.78del
ENST00000524788.2:n.1286del
ENST00000524903.2:n.1402del
ENST00000528571.6:c.*14del ENSP00000434647.1:n.*14del
ENST00000530040.2:n.303del
ENST00000533371.6:c.-456del ENSP00000437066.1:n.-456del
ENST00000534644.6:n.275del
ENST00000642892.1:c.-403del ENSP00000494165.1:n.-403del
ENST00000643439.1:c.*14del ENSP00000495849.1:n.*14del
ENST00000643479.1:n.303del
ENST00000643516.1:c.161del
ENST00000644151.1:n.1566del
ENST00000644218.1:c.274del ENSP00000493574.1:p.Ser92ProfsTer3
ENST00000644683.1:c.274del ENSP00000494085.1:p.Ser92ProfsTer3
ENST00000644810.1:c.230-579del ENSP00000495895.1:n.230-579del
ENST00000644831.1:n.303del
ENST00000644933.1:c.-456del ENSP00000496133.1:n.-456del
ENST00000645020.1:n.1302del
ENST00000645285.1:c.-456del ENSP00000495058.1:n.-456del
ENST00000645331.1:n.296del
ENST00000645620.1:c.-398del ENSP00000493657.1:n.-398del
ENST00000646777.1:n.303del
ENST00000647016.1:n.607del
ENST00000647152.1:c.-456del ENSP00000495893.1:n.-456del
ENST00000647209.1:c.*143del ENSP00000495558.1:n.*143del
ENST00000647346.1:n.1294del
ENST00000299427.10:c.274del ENSP00000299427.6:p.Ser92ProfsTer3
ENST00000428886.6:n.296del
ENST00000436873.6:c.274del ENSP00000398136.2:p.Ser92ProfsTer3
ENST00000528571.5:c.*14del ENSP00000434647.1:n.*14del
ENST00000530040.1:n.386del
ENST00000533371.5:c.-456del ENSP00000437066.1:n.-456del
ENST00000534644.5:n.259del
ENST00000611494.4:c.274del ENSP00000484546.1:p.Ser92ProfsTer3
NM_000391.3:c.274del NP_000382.3:p.Ser92ProfsTer3
NM_000391.4:c.274del MANE Select NP_000382.3:p.Ser92ProfsTer3