Canonical Allele Identifier: CA1950234016
Gene: TPP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6615227_6615229delinsCAG , CM000673.2:g.6615227_6615229delinsCAG GRCh38
NC_000011.9:g.6636458_6636460delinsCAG , CM000673.1:g.6636458_6636460delinsCAG GRCh37
NC_000011.8:g.6593034_6593036delinsCAG NCBI36
NG_008653.1:g.9233_9235delinsCTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.1253_1255delinsCTG ENSP00000507321.1:p.Ser418=
ENST00000299427.12:c.1367_1369delinsCTG MANE Select ENSP00000299427.6:p.Ser456=
ENST00000524611.2:n.227_229delinsCTG
ENST00000524924.2:n.487_489delinsCTG
ENST00000533371.6:c.638_640delinsCTG ENSP00000437066.1:p.Ser213=
ENST00000642892.1:c.638_640delinsCTG ENSP00000494165.1:p.Ser213=
ENST00000643342.1:c.440_442delinsCTG
ENST00000643439.1:c.*1107_*1109delinsCTG ENSP00000495849.1:n.*1107_*1109delinsCTG
ENST00000643479.1:n.1553_1555delinsCTG
ENST00000643516.1:c.876_878delinsCTG
ENST00000644218.1:c.1178_1180delinsCTG ENSP00000493574.1:p.Ser393=
ENST00000644683.1:c.*820_*822delinsCTG ENSP00000494085.1:n.*820_*822delinsCTG
ENST00000644810.1:c.1088_1090delinsCTG ENSP00000495895.1:p.Ser363=
ENST00000644831.1:n.1543_1545delinsCTG
ENST00000644933.1:c.*233_*235delinsCTG ENSP00000496133.1:n.*233_*235delinsCTG
ENST00000645285.1:c.*233_*235delinsCTG ENSP00000495058.1:n.*233_*235delinsCTG
ENST00000645331.1:n.2572_2574delinsCTG
ENST00000645620.1:c.638_640delinsCTG ENSP00000493657.1:p.Ser213=
ENST00000646691.1:n.1254_1256delinsCTG
ENST00000646777.1:n.1700_1702delinsCTG
ENST00000647016.1:n.1847_1849delinsCTG
ENST00000647152.1:c.638_640delinsCTG ENSP00000495893.1:p.Ser213=
ENST00000647209.1:c.*1236_*1238delinsCTG ENSP00000495558.1:n.*1236_*1238delinsCTG
ENST00000647346.1:n.2387_2389delinsCTG
ENST00000299427.10:c.1367_1369delinsCTG ENSP00000299427.6:p.Ser456=
ENST00000524611.1:n.245_247delinsCTG
ENST00000532191.1:n.420_422delinsCTG
ENST00000533371.5:c.638_640delinsCTG ENSP00000437066.1:p.Ser213=
ENST00000611494.4:c.1367_1369delinsCTG ENSP00000484546.1:p.Ser456=
NM_000391.3:c.1367_1369delinsCTG NP_000382.3:p.Ser456=
NM_000391.4:c.1367_1369delinsCTG MANE Select NP_000382.3:p.Ser456=