Canonical Allele Identifier: CA472922910
Gene: TPP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6617313_6617314insC , CM000673.2:g.6617313_6617314insC GRCh38
NC_000011.9:g.6638544_6638545insC , CM000673.1:g.6638544_6638545insC GRCh37
NC_000011.8:g.6595120_6595121insC NCBI36
NG_008653.1:g.7148_7149insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.381_382insG ENSP00000507321.1:p.His128AlafsTer22
ENST00000299427.12:c.495_496insG MANE Select ENSP00000299427.6:p.His166AlafsTer22
ENST00000428886.7:n.583_584insG
ENST00000436873.7:c.299_300insG
ENST00000524788.2:n.1507_1508insG
ENST00000524903.2:n.1623_1624insG
ENST00000528571.6:c.*235_*236insG ENSP00000434647.1:n.*235_*236insG
ENST00000528807.2:n.151_152insG
ENST00000530040.2:n.479+45_479+46insG
ENST00000533371.6:c.-235_-234insG ENSP00000437066.1:n.-235_-234insG
ENST00000534644.6:n.456+40_456+41insG
ENST00000642892.1:c.-222+40_-222+41insG ENSP00000494165.1:n.-222+40_-222+41insG
ENST00000643439.1:c.*235_*236insG ENSP00000495849.1:n.*235_*236insG
ENST00000643479.1:n.524_525insG
ENST00000643516.1:c.382_383insG
ENST00000644151.1:n.1787_1788insG
ENST00000644218.1:c.495_496insG ENSP00000493574.1:p.His166AlafsTer22
ENST00000644683.1:c.450+45_450+46insG ENSP00000494085.1:n.450+45_450+46insG
ENST00000644810.1:c.230-161_230-160insG ENSP00000495895.1:n.230-161_230-160insG
ENST00000644831.1:n.524_525insG
ENST00000644933.1:c.-235_-234insG ENSP00000496133.1:n.-235_-234insG
ENST00000645020.1:n.1523_1524insG
ENST00000645285.1:c.-235_-234insG ENSP00000495058.1:n.-235_-234insG
ENST00000645331.1:n.714_715insG
ENST00000645620.1:c.-222+45_-222+46insG ENSP00000493657.1:n.-222+45_-222+46insG
ENST00000646777.1:n.524_525insG
ENST00000647016.1:n.828_829insG
ENST00000647152.1:c.-235_-234insG ENSP00000495893.1:n.-235_-234insG
ENST00000647209.1:c.*364_*365insG ENSP00000495558.1:n.*364_*365insG
ENST00000647346.1:n.1515_1516insG
ENST00000299427.10:c.495_496insG ENSP00000299427.6:p.His166AlafsTer22
ENST00000428886.6:n.517_518insG
ENST00000436873.6:c.450+45_450+46insG ENSP00000398136.2:n.450+45_450+46insG
ENST00000524788.1:n.48_49insG
ENST00000528571.5:c.*235_*236insG ENSP00000434647.1:n.*235_*236insG
ENST00000533371.5:c.-235_-234insG ENSP00000437066.1:n.-235_-234insG
ENST00000534644.5:n.480_481insG
ENST00000611494.4:c.495_496insG ENSP00000484546.1:p.His166AlafsTer22
NM_000391.3:c.495_496insG NP_000382.3:p.His166AlafsTer22
NM_000391.4:c.495_496insG MANE Select NP_000382.3:p.His166AlafsTer22