Canonical Allele Identifier: CA2790314369
Gene: TPP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6617528_6617537del , CM000673.2:g.6617528_6617537del GRCh38
NC_000011.9:g.6638759_6638768del , CM000673.1:g.6638759_6638768del GRCh37
NC_000011.8:g.6595335_6595344del NCBI36
NG_008653.1:g.6925_6934del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.266+89_266+98del ENSP00000507321.1:n.266+89_266+98del
ENST00000299427.12:c.380+89_380+98del MANE Select ENSP00000299427.6:n.380+89_380+98del
ENST00000428886.7:n.468+89_468+98del
ENST00000436873.7:c.184+89_184+98del
ENST00000524788.2:n.1392+89_1392+98del
ENST00000524903.2:n.1508+89_1508+98del
ENST00000528571.6:c.*120+89_*120+98del ENSP00000434647.1:n.*120+89_*120+98del
ENST00000530040.2:n.409+89_409+98del
ENST00000533371.6:c.-350+89_-350+98del ENSP00000437066.1:n.-350+89_-350+98del
ENST00000534644.6:n.381+89_381+98del
ENST00000642892.1:c.-297+89_-297+98del ENSP00000494165.1:n.-297+89_-297+98del
ENST00000643439.1:c.*120+89_*120+98del ENSP00000495849.1:n.*120+89_*120+98del
ENST00000643479.1:n.409+89_409+98del
ENST00000643516.1:c.267+89_267+98del
ENST00000644151.1:n.1672+89_1672+98del
ENST00000644218.1:c.380+89_380+98del ENSP00000493574.1:n.380+89_380+98del
ENST00000644683.1:c.380+89_380+98del ENSP00000494085.1:n.380+89_380+98del
ENST00000644810.1:c.230-384_230-375del ENSP00000495895.1:n.230-384_230-375del
ENST00000644831.1:n.409+89_409+98del
ENST00000644933.1:c.-350+89_-350+98del ENSP00000496133.1:n.-350+89_-350+98del
ENST00000645020.1:n.1408+89_1408+98del
ENST00000645285.1:c.-350+89_-350+98del ENSP00000495058.1:n.-350+89_-350+98del
ENST00000645331.1:n.491_500del
ENST00000645620.1:c.-292+89_-292+98del ENSP00000493657.1:n.-292+89_-292+98del
ENST00000646777.1:n.409+89_409+98del
ENST00000647016.1:n.713+89_713+98del
ENST00000647152.1:c.-350+89_-350+98del ENSP00000495893.1:n.-350+89_-350+98del
ENST00000647209.1:c.*249+89_*249+98del ENSP00000495558.1:n.*249+89_*249+98del
ENST00000647346.1:n.1400+89_1400+98del
ENST00000299427.10:c.380+89_380+98del ENSP00000299427.6:n.380+89_380+98del
ENST00000428886.6:n.402+89_402+98del
ENST00000436873.6:c.380+89_380+98del ENSP00000398136.2:n.380+89_380+98del
ENST00000528571.5:c.*120+89_*120+98del ENSP00000434647.1:n.*120+89_*120+98del
ENST00000530040.1:n.492+89_492+98del
ENST00000533371.5:c.-350+89_-350+98del ENSP00000437066.1:n.-350+89_-350+98del
ENST00000534644.5:n.365+89_365+98del
ENST00000611494.4:c.380+89_380+98del ENSP00000484546.1:n.380+89_380+98del
NM_000391.3:c.380+89_380+98del NP_000382.3:n.380+89_380+98del
NM_000391.4:c.380+89_380+98del MANE Select NP_000382.3:n.380+89_380+98del