Canonical Allele Identifier: CA918812072
Gene: TPP1 HGNC NCBI

Linked Data

dbSNP Id: rs1589948428

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6616750del , CM000673.2:g.6616750del GRCh38
NC_000011.9:g.6637981del , CM000673.1:g.6637981del GRCh37
NC_000011.8:g.6594557del NCBI36
NG_008653.1:g.7715del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.686del ENSP00000507321.1:p.Gly229AlafsTer9
ENST00000299427.12:c.800del MANE Select ENSP00000299427.6:p.Gly267AlafsTer9
ENST00000436873.7:c.312+554del
ENST00000524788.2:n.1959del
ENST00000524903.2:n.2075del
ENST00000528807.2:n.456del
ENST00000530040.2:n.480-244del
ENST00000533371.6:c.71del ENSP00000437066.1:p.Gly24AlafsTer9
ENST00000642892.1:c.71del ENSP00000494165.1:p.Gly24AlafsTer9
ENST00000643439.1:c.*540del ENSP00000495849.1:n.*540del
ENST00000643479.1:n.829del
ENST00000643516.1:c.396-244del
ENST00000644151.1:n.2239del
ENST00000644218.1:c.800del ENSP00000493574.1:p.Gly267AlafsTer9
ENST00000644683.1:c.*253del ENSP00000494085.1:n.*253del
ENST00000644810.1:c.521del ENSP00000495895.1:p.Gly174AlafsTer9
ENST00000644831.1:n.976del
ENST00000644933.1:c.71del ENSP00000496133.1:p.Gly24AlafsTer9
ENST00000645020.1:n.2090del
ENST00000645285.1:c.71del ENSP00000495058.1:p.Gly24AlafsTer9
ENST00000645331.1:n.1166del
ENST00000645620.1:c.71del ENSP00000493657.1:p.Gly24AlafsTer9
ENST00000646777.1:n.976del
ENST00000647016.1:n.1280del
ENST00000647152.1:c.71del ENSP00000495893.1:p.Gly24AlafsTer9
ENST00000647209.1:c.*669del ENSP00000495558.1:n.*669del
ENST00000647346.1:n.1820del
ENST00000299427.10:c.800del ENSP00000299427.6:p.Gly267AlafsTer9
ENST00000436873.6:c.451-244del ENSP00000398136.2:n.451-244del
ENST00000524788.1:n.500del
ENST00000528807.1:n.350del
ENST00000533371.5:c.71del ENSP00000437066.1:p.Gly24AlafsTer9
ENST00000611494.4:c.800del ENSP00000484546.1:p.Gly267AlafsTer9
NM_000391.3:c.800del NP_000382.3:p.Gly267AlafsTer9
NM_000391.4:c.800del MANE Select NP_000382.3:p.Gly267AlafsTer9