Canonical Allele Identifier: CA912972913
Gene: TPP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6615202_6615204del , CM000673.2:g.6615202_6615204del GRCh38
NC_000011.9:g.6636433_6636435del , CM000673.1:g.6636433_6636435del GRCh37
NC_000011.8:g.6593009_6593011del NCBI36
NG_008653.1:g.9258_9260del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.1278_1280del ENSP00000507321.1:p.Asn426_Arg427delinsLys
ENST00000299427.12:c.1392_1394del MANE Select ENSP00000299427.6:p.Asn464_Arg465delinsLys
ENST00000524611.2:n.252_254del
ENST00000524924.2:n.512_514del
ENST00000533371.6:c.663_665del ENSP00000437066.1:p.Asn221_Arg222delinsLys
ENST00000642892.1:c.663_665del ENSP00000494165.1:p.Asn221_Arg222delinsLys
ENST00000643342.1:c.465_467del
ENST00000643439.1:c.*1132_*1134del ENSP00000495849.1:n.*1132_*1134del
ENST00000643479.1:n.1578_1580del
ENST00000643516.1:c.901_903del
ENST00000644218.1:c.1203_1205del ENSP00000493574.1:p.Asn401_Arg402delinsLys
ENST00000644683.1:c.*845_*847del ENSP00000494085.1:n.*845_*847del
ENST00000644810.1:c.1113_1115del ENSP00000495895.1:p.Asn371_Arg372delinsLys
ENST00000644831.1:n.1568_1570del
ENST00000644933.1:c.*258_*260del ENSP00000496133.1:n.*258_*260del
ENST00000645285.1:c.*258_*260del ENSP00000495058.1:n.*258_*260del
ENST00000645331.1:n.2597_2599del
ENST00000645620.1:c.663_665del ENSP00000493657.1:p.Asn221_Arg222delinsLys
ENST00000646691.1:n.1279_1281del
ENST00000646777.1:n.1725_1727del
ENST00000647016.1:n.1872_1874del
ENST00000647152.1:c.663_665del ENSP00000495893.1:p.Asn221_Arg222delinsLys
ENST00000647209.1:c.*1261_*1263del ENSP00000495558.1:n.*1261_*1263del
ENST00000647346.1:n.2412_2414del
ENST00000299427.10:c.1392_1394del ENSP00000299427.6:p.Asn464_Arg465delinsLys
ENST00000524611.1:n.270_272del
ENST00000533371.5:c.663_665del ENSP00000437066.1:p.Asn221_Arg222delinsLys
ENST00000611494.4:c.1392_1394del ENSP00000484546.1:p.Asn464_Arg465delinsLys
NM_000391.3:c.1392_1394del NP_000382.3:p.Asn464_Arg465delinsLys
NM_000391.4:c.1392_1394del MANE Select NP_000382.3:p.Asn464_Arg465delinsLys