Canonical Allele Identifier: CA2612257263
Gene: TPP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6615508del , CM000673.2:g.6615508del GRCh38
NC_000011.9:g.6636739del , CM000673.1:g.6636739del GRCh37
NC_000011.8:g.6593315del NCBI36
NG_008653.1:g.8956del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.1088del ENSP00000507321.1:p.Asn363MetfsTer26
ENST00000299427.12:c.1202del MANE Select ENSP00000299427.6:p.Asn401MetfsTer26
ENST00000436873.7:c.439del
ENST00000524924.2:n.322del
ENST00000533371.6:c.473del ENSP00000437066.1:p.Asn158MetfsTer26
ENST00000642892.1:c.473del ENSP00000494165.1:p.Asn158MetfsTer26
ENST00000643342.1:c.275del
ENST00000643439.1:c.*942del ENSP00000495849.1:n.*942del
ENST00000643479.1:n.1388del
ENST00000643516.1:c.711del
ENST00000644218.1:c.1013del ENSP00000493574.1:p.Asn338MetfsTer26
ENST00000644683.1:c.*655del ENSP00000494085.1:n.*655del
ENST00000644810.1:c.923del ENSP00000495895.1:p.Asn308MetfsTer26
ENST00000644831.1:n.1378del
ENST00000644933.1:c.*68del ENSP00000496133.1:n.*68del
ENST00000645285.1:c.*68del ENSP00000495058.1:n.*68del
ENST00000645331.1:n.2407del
ENST00000645620.1:c.473del ENSP00000493657.1:p.Asn158MetfsTer26
ENST00000646691.1:n.977del
ENST00000646777.1:n.1535del
ENST00000647016.1:n.1682del
ENST00000647152.1:c.473del ENSP00000495893.1:p.Asn158MetfsTer26
ENST00000647209.1:c.*1071del ENSP00000495558.1:n.*1071del
ENST00000647346.1:n.2222del
ENST00000299427.10:c.1202del ENSP00000299427.6:p.Asn401MetfsTer26
ENST00000524924.1:n.157del
ENST00000532191.1:n.255del
ENST00000533371.5:c.473del ENSP00000437066.1:p.Asn158MetfsTer26
ENST00000611494.4:c.1202del ENSP00000484546.1:p.Asn401MetfsTer26
NM_000391.3:c.1202del NP_000382.3:p.Asn401MetfsTer26
NM_000391.4:c.1202del MANE Select NP_000382.3:p.Asn401MetfsTer26