Canonical Allele Identifier: CA1950232536
Gene: TPP1 HGNC NCBI

Linked Data

dbSNP Id: rs1855545434

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6614548del , CM000673.2:g.6614548del GRCh38
NC_000011.9:g.6635779del , CM000673.1:g.6635779del GRCh37
NC_000011.8:g.6592355del NCBI36
NG_008653.1:g.9914del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.1576del ENSP00000507321.1:p.Ter526AspextTer14
ENST00000299427.12:c.1690del MANE Select ENSP00000299427.6:p.Ter564AspextTer14
ENST00000524611.2:n.729del
ENST00000533371.6:c.961del ENSP00000437066.1:p.Ter321AspextTer14
ENST00000642892.1:c.961del ENSP00000494165.1:p.Ter321AspextTer14
ENST00000643342.1:c.763del
ENST00000643439.1:c.*1430del ENSP00000495849.1:n.*1430del
ENST00000643479.1:n.1876del
ENST00000643516.1:c.1199del
ENST00000644218.1:c.1501del ENSP00000493574.1:p.Ter501AspextTer14
ENST00000644683.1:c.*1143del ENSP00000494085.1:n.*1143del
ENST00000644810.1:c.1411del ENSP00000495895.1:p.Ter471AspextTer14
ENST00000644831.1:n.1866del
ENST00000644933.1:c.*556del ENSP00000496133.1:n.*556del
ENST00000645285.1:c.*556del ENSP00000495058.1:n.*556del
ENST00000645331.1:n.2895del
ENST00000645620.1:c.961del ENSP00000493657.1:p.Ter321AspextTer14
ENST00000646691.1:n.1577del
ENST00000646777.1:n.2023del
ENST00000647016.1:n.2170del
ENST00000647152.1:c.961del ENSP00000495893.1:p.Ter321AspextTer14
ENST00000647209.1:c.*1559del ENSP00000495558.1:n.*1559del
ENST00000647346.1:n.2710del
ENST00000299427.10:c.1690del ENSP00000299427.6:p.Ter564AspextTer14
ENST00000533371.5:c.961del ENSP00000437066.1:p.Ter321AspextTer14
ENST00000611494.4:c.*18del ENSP00000484546.1:n.*18del
NM_000391.3:c.1690del NP_000382.3:p.Ter564AspextTer14
NM_000391.4:c.1690del MANE Select NP_000382.3:p.Ter564AspextTer14