Canonical Allele Identifier: CA2695213227
Gene: TPP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6617369del , CM000673.2:g.6617369del GRCh38
NC_000011.9:g.6638600del , CM000673.1:g.6638600del GRCh37
NC_000011.8:g.6595176del NCBI36
NG_008653.1:g.7095del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.328del ENSP00000507321.1:p.Thr110ProfsTer4
ENST00000299427.12:c.442del MANE Select ENSP00000299427.6:p.Thr148ProfsTer4
ENST00000428886.7:n.530del
ENST00000436873.7:c.246del
ENST00000524788.2:n.1454del
ENST00000524903.2:n.1570del
ENST00000528571.6:c.*182del ENSP00000434647.1:n.*182del
ENST00000528807.2:n.98del
ENST00000530040.2:n.471del
ENST00000533371.6:c.-288del ENSP00000437066.1:n.-288del
ENST00000534644.6:n.443del
ENST00000642892.1:c.-235del ENSP00000494165.1:n.-235del
ENST00000643439.1:c.*182del ENSP00000495849.1:n.*182del
ENST00000643479.1:n.471del
ENST00000643516.1:c.329del
ENST00000644151.1:n.1734del
ENST00000644218.1:c.442del ENSP00000493574.1:p.Thr148ProfsTer4
ENST00000644683.1:c.442del ENSP00000494085.1:p.Thr148ProfsTer20
ENST00000644810.1:c.230-214del ENSP00000495895.1:n.230-214del
ENST00000644831.1:n.471del
ENST00000644933.1:c.-288del ENSP00000496133.1:n.-288del
ENST00000645020.1:n.1470del
ENST00000645285.1:c.-288del ENSP00000495058.1:n.-288del
ENST00000645331.1:n.661del
ENST00000645620.1:c.-230del ENSP00000493657.1:n.-230del
ENST00000646777.1:n.471del
ENST00000647016.1:n.775del
ENST00000647152.1:c.-288del ENSP00000495893.1:n.-288del
ENST00000647209.1:c.*311del ENSP00000495558.1:n.*311del
ENST00000647346.1:n.1462del
ENST00000299427.10:c.442del ENSP00000299427.6:p.Thr148ProfsTer4
ENST00000428886.6:n.464del
ENST00000436873.6:c.442del ENSP00000398136.2:p.Thr148ProfsTer6
ENST00000528571.5:c.*182del ENSP00000434647.1:n.*182del
ENST00000533371.5:c.-288del ENSP00000437066.1:n.-288del
ENST00000534644.5:n.427del
ENST00000611494.4:c.442del ENSP00000484546.1:p.Thr148ProfsTer4
NM_000391.3:c.442del NP_000382.3:p.Thr148ProfsTer4
NM_000391.4:c.442del MANE Select NP_000382.3:p.Thr148ProfsTer4