Canonical Allele Identifier: CA1950215355
Gene: TPP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6617731_6617732delinsGA , CM000673.2:g.6617731_6617732delinsGA GRCh38
NC_000011.9:g.6638962_6638963delinsGA , CM000673.1:g.6638962_6638963delinsGA GRCh37
NC_000011.8:g.6595538_6595539delinsGA NCBI36
NG_008653.1:g.6730_6731delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.160_161delinsTC ENSP00000507321.1:p.Ser54=
ENST00000299427.12:c.274_275delinsTC MANE Select ENSP00000299427.6:p.Ser92=
ENST00000428886.7:n.362_363delinsTC
ENST00000436873.7:c.78_79delinsTC
ENST00000524788.2:n.1286_1287delinsTC
ENST00000524903.2:n.1402_1403delinsTC
ENST00000528571.6:c.*14_*15delinsTC ENSP00000434647.1:n.*14_*15delinsTC
ENST00000530040.2:n.303_304delinsTC
ENST00000533371.6:c.-456_-455delinsTC ENSP00000437066.1:n.-456_-455delinsTC
ENST00000534644.6:n.275_276delinsTC
ENST00000642892.1:c.-403_-402delinsTC ENSP00000494165.1:n.-403_-402delinsTC
ENST00000643439.1:c.*14_*15delinsTC ENSP00000495849.1:n.*14_*15delinsTC
ENST00000643479.1:n.303_304delinsTC
ENST00000643516.1:c.161_162delinsTC
ENST00000644151.1:n.1566_1567delinsTC
ENST00000644218.1:c.274_275delinsTC ENSP00000493574.1:p.Ser92=
ENST00000644683.1:c.274_275delinsTC ENSP00000494085.1:p.Ser92=
ENST00000644810.1:c.230-579_230-578delinsTC ENSP00000495895.1:n.230-579_230-578delinsTC
ENST00000644831.1:n.303_304delinsTC
ENST00000644933.1:c.-456_-455delinsTC ENSP00000496133.1:n.-456_-455delinsTC
ENST00000645020.1:n.1302_1303delinsTC
ENST00000645285.1:c.-456_-455delinsTC ENSP00000495058.1:n.-456_-455delinsTC
ENST00000645331.1:n.296_297delinsTC
ENST00000645620.1:c.-398_-397delinsTC ENSP00000493657.1:n.-398_-397delinsTC
ENST00000646777.1:n.303_304delinsTC
ENST00000647016.1:n.607_608delinsTC
ENST00000647152.1:c.-456_-455delinsTC ENSP00000495893.1:n.-456_-455delinsTC
ENST00000647209.1:c.*143_*144delinsTC ENSP00000495558.1:n.*143_*144delinsTC
ENST00000647346.1:n.1294_1295delinsTC
ENST00000299427.10:c.274_275delinsTC ENSP00000299427.6:p.Ser92=
ENST00000428886.6:n.296_297delinsTC
ENST00000436873.6:c.274_275delinsTC ENSP00000398136.2:p.Ser92=
ENST00000528571.5:c.*14_*15delinsTC ENSP00000434647.1:n.*14_*15delinsTC
ENST00000530040.1:n.386_387delinsTC
ENST00000533371.5:c.-456_-455delinsTC ENSP00000437066.1:n.-456_-455delinsTC
ENST00000534644.5:n.259_260delinsTC
ENST00000611494.4:c.274_275delinsTC ENSP00000484546.1:p.Ser92=
NM_000391.3:c.274_275delinsTC NP_000382.3:p.Ser92=
NM_000391.4:c.274_275delinsTC MANE Select NP_000382.3:p.Ser92=