Canonical Allele Identifier: CA912972914
Gene: TPP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6615227_6615229del , CM000673.2:g.6615227_6615229del GRCh38
NC_000011.9:g.6636458_6636460del , CM000673.1:g.6636458_6636460del GRCh37
NC_000011.8:g.6593034_6593036del NCBI36
NG_008653.1:g.9233_9235del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.1253_1255del ENSP00000507321.1:p.Ser418_Asp419delinsTyr
ENST00000299427.12:c.1367_1369del MANE Select ENSP00000299427.6:p.Ser456_Asp457delinsTyr
ENST00000524611.2:n.227_229del
ENST00000524924.2:n.487_489del
ENST00000533371.6:c.638_640del ENSP00000437066.1:p.Ser213_Asp214delinsTyr
ENST00000642892.1:c.638_640del ENSP00000494165.1:p.Ser213_Asp214delinsTyr
ENST00000643342.1:c.440_442del
ENST00000643439.1:c.*1107_*1109del ENSP00000495849.1:n.*1107_*1109del
ENST00000643479.1:n.1553_1555del
ENST00000643516.1:c.876_878del
ENST00000644218.1:c.1178_1180del ENSP00000493574.1:p.Ser393_Asp394delinsTyr
ENST00000644683.1:c.*820_*822del ENSP00000494085.1:n.*820_*822del
ENST00000644810.1:c.1088_1090del ENSP00000495895.1:p.Ser363_Asp364delinsTyr
ENST00000644831.1:n.1543_1545del
ENST00000644933.1:c.*233_*235del ENSP00000496133.1:n.*233_*235del
ENST00000645285.1:c.*233_*235del ENSP00000495058.1:n.*233_*235del
ENST00000645331.1:n.2572_2574del
ENST00000645620.1:c.638_640del ENSP00000493657.1:p.Ser213_Asp214delinsTyr
ENST00000646691.1:n.1254_1256del
ENST00000646777.1:n.1700_1702del
ENST00000647016.1:n.1847_1849del
ENST00000647152.1:c.638_640del ENSP00000495893.1:p.Ser213_Asp214delinsTyr
ENST00000647209.1:c.*1236_*1238del ENSP00000495558.1:n.*1236_*1238del
ENST00000647346.1:n.2387_2389del
ENST00000299427.10:c.1367_1369del ENSP00000299427.6:p.Ser456_Asp457delinsTyr
ENST00000524611.1:n.245_247del
ENST00000532191.1:n.420_422del
ENST00000533371.5:c.638_640del ENSP00000437066.1:p.Ser213_Asp214delinsTyr
ENST00000611494.4:c.1367_1369del ENSP00000484546.1:p.Ser456_Asp457delinsTyr
NM_000391.3:c.1367_1369del NP_000382.3:p.Ser456_Asp457delinsTyr
NM_000391.4:c.1367_1369del MANE Select NP_000382.3:p.Ser456_Asp457delinsTyr