Canonical Allele Identifier: CA2612257987
Gene: TPP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6616208_6616213del , CM000673.2:g.6616208_6616213del GRCh38
NC_000011.9:g.6637439_6637444del , CM000673.1:g.6637439_6637444del GRCh37
NC_000011.8:g.6594015_6594020del NCBI36
NG_008653.1:g.8251_8256del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.961+104_961+109del ENSP00000507321.1:n.961+104_961+109del
ENST00000299427.12:c.1075+104_1075+109del MANE Select ENSP00000299427.6:n.1075+104_1075+109del
ENST00000436873.7:c.313-137_313-132del
ENST00000524924.2:n.59_64del
ENST00000533371.6:c.346+104_346+109del ENSP00000437066.1:n.346+104_346+109del
ENST00000642892.1:c.346+104_346+109del ENSP00000494165.1:n.346+104_346+109del
ENST00000643342.1:c.165+104_165+109del
ENST00000643439.1:c.*815+104_*815+109del ENSP00000495849.1:n.*815+104_*815+109del
ENST00000643479.1:n.1261+104_1261+109del
ENST00000643516.1:c.584+104_584+109del
ENST00000644218.1:c.887-137_887-132del ENSP00000493574.1:n.887-137_887-132del
ENST00000644683.1:c.*528+104_*528+109del ENSP00000494085.1:n.*528+104_*528+109del
ENST00000644810.1:c.796+104_796+109del ENSP00000495895.1:n.796+104_796+109del
ENST00000644831.1:n.1251+104_1251+109del
ENST00000644933.1:c.346+104_346+109del ENSP00000496133.1:n.346+104_346+109del
ENST00000645285.1:c.158-137_158-132del ENSP00000495058.1:n.158-137_158-132del
ENST00000645331.1:n.1702_1707del
ENST00000645620.1:c.346+104_346+109del ENSP00000493657.1:n.346+104_346+109del
ENST00000646691.1:n.272_277del
ENST00000646777.1:n.1408+104_1408+109del
ENST00000647016.1:n.1555+104_1555+109del
ENST00000647152.1:c.346+104_346+109del ENSP00000495893.1:n.346+104_346+109del
ENST00000647209.1:c.*944+104_*944+109del ENSP00000495558.1:n.*944+104_*944+109del
ENST00000647346.1:n.2095+104_2095+109del
ENST00000299427.10:c.1075+104_1075+109del ENSP00000299427.6:n.1075+104_1075+109del
ENST00000533371.5:c.346+104_346+109del ENSP00000437066.1:n.346+104_346+109del
ENST00000611494.4:c.1075+104_1075+109del ENSP00000484546.1:n.1075+104_1075+109del
NM_000391.3:c.1075+104_1075+109del NP_000382.3:n.1075+104_1075+109del
NM_000391.4:c.1075+104_1075+109del MANE Select NP_000382.3:n.1075+104_1075+109del