Canonical Allele Identifier: CA1950236078
Gene: TPP1 HGNC NCBI

Linked Data

dbSNP Id: rs1855579877

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6616234_6616247del , CM000673.2:g.6616234_6616247del GRCh38
NC_000011.9:g.6637465_6637478del , CM000673.1:g.6637465_6637478del GRCh37
NC_000011.8:g.6594041_6594054del NCBI36
NG_008653.1:g.8216_8229del

Transcript Alleles

HGVS Amino-acid change
ENST00000682424.1:c.961+69_961+82del ENSP00000507321.1:n.961+69_961+82del
ENST00000299427.12:c.1075+69_1075+82del MANE Select ENSP00000299427.6:n.1075+69_1075+82del
ENST00000436873.7:c.313-172_313-159del
ENST00000524924.2:n.24_37del
ENST00000533371.6:c.346+69_346+82del ENSP00000437066.1:n.346+69_346+82del
ENST00000642892.1:c.346+69_346+82del ENSP00000494165.1:n.346+69_346+82del
ENST00000643342.1:c.165+69_165+82del
ENST00000643439.1:c.*815+69_*815+82del ENSP00000495849.1:n.*815+69_*815+82del
ENST00000643479.1:n.1261+69_1261+82del
ENST00000643516.1:c.584+69_584+82del
ENST00000644218.1:c.887-172_887-159del ENSP00000493574.1:n.887-172_887-159del
ENST00000644683.1:c.*528+69_*528+82del ENSP00000494085.1:n.*528+69_*528+82del
ENST00000644810.1:c.796+69_796+82del ENSP00000495895.1:n.796+69_796+82del
ENST00000644831.1:n.1251+69_1251+82del
ENST00000644933.1:c.346+69_346+82del ENSP00000496133.1:n.346+69_346+82del
ENST00000645285.1:c.158-172_158-159del ENSP00000495058.1:n.158-172_158-159del
ENST00000645331.1:n.1667_1680del
ENST00000645620.1:c.346+69_346+82del ENSP00000493657.1:n.346+69_346+82del
ENST00000646691.1:n.237_250del
ENST00000646777.1:n.1408+69_1408+82del
ENST00000647016.1:n.1555+69_1555+82del
ENST00000647152.1:c.346+69_346+82del ENSP00000495893.1:n.346+69_346+82del
ENST00000647209.1:c.*944+69_*944+82del ENSP00000495558.1:n.*944+69_*944+82del
ENST00000647346.1:n.2095+69_2095+82del
ENST00000299427.10:c.1075+69_1075+82del ENSP00000299427.6:n.1075+69_1075+82del
ENST00000533371.5:c.346+69_346+82del ENSP00000437066.1:n.346+69_346+82del
ENST00000611494.4:c.1075+69_1075+82del ENSP00000484546.1:n.1075+69_1075+82del
NM_000391.3:c.1075+69_1075+82del NP_000382.3:n.1075+69_1075+82del
NM_000391.4:c.1075+69_1075+82del MANE Select NP_000382.3:n.1075+69_1075+82del