Canonical Allele Identifier: CA1950215294
Gene: TPP1 HGNC NCBI

Linked Data

dbSNP Id: rs1855607510

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6617696del , CM000673.2:g.6617696del GRCh38
NC_000011.9:g.6638927del , CM000673.1:g.6638927del GRCh37
NC_000011.8:g.6595503del NCBI36
NG_008653.1:g.6767del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.197del ENSP00000507321.1:p.Leu66TrpfsTer11
ENST00000299427.12:c.311del MANE Select ENSP00000299427.6:p.Leu104TrpfsTer11
ENST00000428886.7:n.399del
ENST00000436873.7:c.115del
ENST00000524788.2:n.1323del
ENST00000524903.2:n.1439del
ENST00000528571.6:c.*51del ENSP00000434647.1:n.*51del
ENST00000530040.2:n.340del
ENST00000533371.6:c.-419del ENSP00000437066.1:n.-419del
ENST00000534644.6:n.312del
ENST00000642892.1:c.-366del ENSP00000494165.1:n.-366del
ENST00000643439.1:c.*51del ENSP00000495849.1:n.*51del
ENST00000643479.1:n.340del
ENST00000643516.1:c.198del
ENST00000644151.1:n.1603del
ENST00000644218.1:c.311del ENSP00000493574.1:p.Leu104TrpfsTer11
ENST00000644683.1:c.311del ENSP00000494085.1:p.Leu104TrpfsTer11
ENST00000644810.1:c.230-542del ENSP00000495895.1:n.230-542del
ENST00000644831.1:n.340del
ENST00000644933.1:c.-419del ENSP00000496133.1:n.-419del
ENST00000645020.1:n.1339del
ENST00000645285.1:c.-419del ENSP00000495058.1:n.-419del
ENST00000645331.1:n.333del
ENST00000645620.1:c.-361del ENSP00000493657.1:n.-361del
ENST00000646777.1:n.340del
ENST00000647016.1:n.644del
ENST00000647152.1:c.-419del ENSP00000495893.1:n.-419del
ENST00000647209.1:c.*180del ENSP00000495558.1:n.*180del
ENST00000647346.1:n.1331del
ENST00000299427.10:c.311del ENSP00000299427.6:p.Leu104TrpfsTer11
ENST00000428886.6:n.333del
ENST00000436873.6:c.311del ENSP00000398136.2:p.Leu104TrpfsTer11
ENST00000528571.5:c.*51del ENSP00000434647.1:n.*51del
ENST00000530040.1:n.423del
ENST00000533371.5:c.-419del ENSP00000437066.1:n.-419del
ENST00000534644.5:n.296del
ENST00000611494.4:c.311del ENSP00000484546.1:p.Leu104TrpfsTer11
NM_000391.3:c.311del NP_000382.3:p.Leu104TrpfsTer11
NM_000391.4:c.311del MANE Select NP_000382.3:p.Leu104TrpfsTer11