Canonical Allele Identifier: CA1950233834
Gene: TPP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6615171_6615172delinsCG , CM000673.2:g.6615171_6615172delinsCG GRCh38
NC_000011.9:g.6636402_6636403delinsCG , CM000673.1:g.6636402_6636403delinsCG GRCh37
NC_000011.8:g.6592978_6592979delinsCG NCBI36
NG_008653.1:g.9290_9291delinsCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.1310_1311delinsCG ENSP00000507321.1:p.Ser437=
ENST00000299427.12:c.1424_1425delinsCG MANE Select ENSP00000299427.6:p.Ser475=
ENST00000524611.2:n.284_285delinsCG
ENST00000524924.2:n.544_545delinsCG
ENST00000533371.6:c.695_696delinsCG ENSP00000437066.1:p.Ser232=
ENST00000642892.1:c.695_696delinsCG ENSP00000494165.1:p.Ser232=
ENST00000643342.1:c.497_498delinsCG
ENST00000643439.1:c.*1164_*1165delinsCG ENSP00000495849.1:n.*1164_*1165delinsCG
ENST00000643479.1:n.1610_1611delinsCG
ENST00000643516.1:c.933_934delinsCG
ENST00000644218.1:c.1235_1236delinsCG ENSP00000493574.1:p.Ser412=
ENST00000644683.1:c.*877_*878delinsCG ENSP00000494085.1:n.*877_*878delinsCG
ENST00000644810.1:c.1145_1146delinsCG ENSP00000495895.1:p.Ser382=
ENST00000644831.1:n.1600_1601delinsCG
ENST00000644933.1:c.*290_*291delinsCG ENSP00000496133.1:n.*290_*291delinsCG
ENST00000645285.1:c.*290_*291delinsCG ENSP00000495058.1:n.*290_*291delinsCG
ENST00000645331.1:n.2629_2630delinsCG
ENST00000645620.1:c.695_696delinsCG ENSP00000493657.1:p.Ser232=
ENST00000646691.1:n.1311_1312delinsCG
ENST00000646777.1:n.1757_1758delinsCG
ENST00000647016.1:n.1904_1905delinsCG
ENST00000647152.1:c.695_696delinsCG ENSP00000495893.1:p.Ser232=
ENST00000647209.1:c.*1293_*1294delinsCG ENSP00000495558.1:n.*1293_*1294delinsCG
ENST00000647346.1:n.2444_2445delinsCG
ENST00000299427.10:c.1424_1425delinsCG ENSP00000299427.6:p.Ser475=
ENST00000524611.1:n.302_303delinsCG
ENST00000533371.5:c.695_696delinsCG ENSP00000437066.1:p.Ser232=
ENST00000611494.4:c.1424_1425delinsCG ENSP00000484546.1:p.Ser475=
NM_000391.3:c.1424_1425delinsCG NP_000382.3:p.Ser475=
NM_000391.4:c.1424_1425delinsCG MANE Select NP_000382.3:p.Ser475=