Canonical Allele Identifier: CA658822364
Gene: TPP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 557053
ClinVar RCV Id: RCV000673142
dbSNP Id: rs1407106889

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6615204_6615205del , CM000673.2:g.6615204_6615205del GRCh38
NC_000011.9:g.6636435_6636436del , CM000673.1:g.6636435_6636436del GRCh37
NC_000011.8:g.6593011_6593012del NCBI36
NG_008653.1:g.9258_9259del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.1278_1279del ENSP00000507321.1:p.Asn426LysfsTer26
ENST00000299427.12:c.1392_1393del MANE Select ENSP00000299427.6:p.Asn464LysfsTer26
ENST00000524611.2:n.252_253del
ENST00000524924.2:n.512_513del
ENST00000533371.6:c.663_664del ENSP00000437066.1:p.Asn221LysfsTer26
ENST00000642892.1:c.663_664del ENSP00000494165.1:p.Asn221LysfsTer26
ENST00000643342.1:c.465_466del
ENST00000643439.1:c.*1132_*1133del ENSP00000495849.1:n.*1132_*1133del
ENST00000643479.1:n.1578_1579del
ENST00000643516.1:c.901_902del
ENST00000644218.1:c.1203_1204del ENSP00000493574.1:p.Asn401LysfsTer26
ENST00000644683.1:c.*845_*846del ENSP00000494085.1:n.*845_*846del
ENST00000644810.1:c.1113_1114del ENSP00000495895.1:p.Asn371LysfsTer26
ENST00000644831.1:n.1568_1569del
ENST00000644933.1:c.*258_*259del ENSP00000496133.1:n.*258_*259del
ENST00000645285.1:c.*258_*259del ENSP00000495058.1:n.*258_*259del
ENST00000645331.1:n.2597_2598del
ENST00000645620.1:c.663_664del ENSP00000493657.1:p.Asn221LysfsTer26
ENST00000646691.1:n.1279_1280del
ENST00000646777.1:n.1725_1726del
ENST00000647016.1:n.1872_1873del
ENST00000647152.1:c.663_664del ENSP00000495893.1:p.Asn221LysfsTer26
ENST00000647209.1:c.*1261_*1262del ENSP00000495558.1:n.*1261_*1262del
ENST00000647346.1:n.2412_2413del
ENST00000299427.10:c.1392_1393del ENSP00000299427.6:p.Asn464LysfsTer26
ENST00000524611.1:n.270_271del
ENST00000533371.5:c.663_664del ENSP00000437066.1:p.Asn221LysfsTer26
ENST00000611494.4:c.1392_1393del ENSP00000484546.1:p.Asn464LysfsTer26
NM_000391.3:c.1392_1393del NP_000382.3:p.Asn464LysfsTer26
NM_000391.4:c.1392_1393del MANE Select NP_000382.3:p.Asn464LysfsTer26