Canonical Allele Identifier: CA10583993
Gene: TPP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 242356
ClinVar RCV Id: RCV000234817
dbSNP Id: rs878855331

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6617321_6617354del , CM000673.2:g.6617321_6617354del GRCh38
NC_000011.9:g.6638552_6638585del , CM000673.1:g.6638552_6638585del GRCh37
NC_000011.8:g.6595128_6595161del NCBI36
NG_008653.1:g.7110_7143del

Transcript Alleles

HGVS Amino-acid change
ENST00000682424.1:c.343_376del ENSP00000507321.1:p.Ser115ProfsTer19
ENST00000299427.12:c.457_490del MANE Select ENSP00000299427.6:p.Ser153ProfsTer19
ENST00000428886.7:n.545_578del
ENST00000436873.7:c.261_294del
ENST00000524788.2:n.1469_1502del
ENST00000524903.2:n.1585_1618del
ENST00000528571.6:c.*197_*230del ENSP00000434647.1:n.*197_*230del
ENST00000528807.2:n.113_146del
ENST00000530040.2:n.479+7_479+40del
ENST00000533371.6:c.-273_-240del ENSP00000437066.1:n.-273_-240del
ENST00000534644.6:n.456+2_456+35del
ENST00000642892.1:c.-222+2_-222+35del
ENST00000643439.1:c.*197_*230del ENSP00000495849.1:n.*197_*230del
ENST00000643479.1:n.486_519del
ENST00000643516.1:c.344_377del
ENST00000644151.1:n.1749_1782del
ENST00000644218.1:c.457_490del ENSP00000493574.1:p.Ser153ProfsTer19
ENST00000644683.1:c.450+7_450+40del ENSP00000494085.1:n.450+7_450+40del
ENST00000644810.1:c.230-199_230-166del ENSP00000495895.1:n.230-199_230-166del
ENST00000644831.1:n.486_519del
ENST00000644933.1:c.-273_-240del ENSP00000496133.1:n.-273_-240del
ENST00000645020.1:n.1485_1518del
ENST00000645285.1:c.-273_-240del ENSP00000495058.1:n.-273_-240del
ENST00000645331.1:n.676_709del
ENST00000645620.1:c.-222+7_-222+40del ENSP00000493657.1:n.-222+7_-222+40del
ENST00000646777.1:n.486_519del
ENST00000647016.1:n.790_823del
ENST00000647152.1:c.-273_-240del ENSP00000495893.1:n.-273_-240del
ENST00000647209.1:c.*326_*359del ENSP00000495558.1:n.*326_*359del
ENST00000647346.1:n.1477_1510del
ENST00000299427.10:c.457_490del ENSP00000299427.6:p.Ser153ProfsTer19
ENST00000428886.6:n.479_512del
ENST00000436873.6:c.450+7_450+40del ENSP00000398136.2:n.450+7_450+40del
ENST00000524788.1:n.10_43del
ENST00000528571.5:c.*197_*230del ENSP00000434647.1:n.*197_*230del
ENST00000533371.5:c.-273_-240del ENSP00000437066.1:n.-273_-240del
ENST00000534644.5:n.442_475del
ENST00000611494.4:c.457_490del ENSP00000484546.1:p.Ser153ProfsTer19
NM_000391.3:c.457_490del NP_000382.3:p.Ser153ProfsTer19
NM_000391.4:c.457_490del MANE Select NP_000382.3:p.Ser153ProfsTer19