Canonical Allele Identifier: CA658822366
Gene: TPP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 555768
ClinVar RCV Id: RCV000671649
dbSNP Id: rs1554901606

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6615369_6615388del , CM000673.2:g.6615369_6615388del GRCh38
NC_000011.9:g.6636600_6636619del , CM000673.1:g.6636600_6636619del GRCh37
NC_000011.8:g.6593176_6593195del NCBI36
NG_008653.1:g.9077_9096del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.1153-56_1153-37del ENSP00000507321.1:n.1153-56_1153-37del
ENST00000299427.12:c.1267-56_1267-37del MANE Select ENSP00000299427.6:n.1267-56_1267-37del
ENST00000436873.7:c.504-56_504-37del
ENST00000524611.2:n.71_90del
ENST00000524924.2:n.387-56_387-37del
ENST00000533371.6:c.538-56_538-37del ENSP00000437066.1:n.538-56_538-37del
ENST00000642892.1:c.538-56_538-37del ENSP00000494165.1:n.538-56_538-37del
ENST00000643342.1:c.340-56_340-37del
ENST00000643439.1:c.*1007-56_*1007-37del ENSP00000495849.1:n.*1007-56_*1007-37del
ENST00000643479.1:n.1453-56_1453-37del
ENST00000643516.1:c.776-56_776-37del
ENST00000644218.1:c.1078-56_1078-37del ENSP00000493574.1:n.1078-56_1078-37del
ENST00000644683.1:c.*720-56_*720-37del ENSP00000494085.1:n.*720-56_*720-37del
ENST00000644810.1:c.988-56_988-37del ENSP00000495895.1:n.988-56_988-37del
ENST00000644831.1:n.1443-56_1443-37del
ENST00000644933.1:c.*133-56_*133-37del ENSP00000496133.1:n.*133-56_*133-37del
ENST00000645285.1:c.*133-56_*133-37del ENSP00000495058.1:n.*133-56_*133-37del
ENST00000645331.1:n.2472-56_2472-37del
ENST00000645620.1:c.538-56_538-37del ENSP00000493657.1:n.538-56_538-37del
ENST00000646691.1:n.1098_1117del
ENST00000646777.1:n.1600-56_1600-37del
ENST00000647016.1:n.1747-56_1747-37del
ENST00000647152.1:c.538-56_538-37del ENSP00000495893.1:n.538-56_538-37del
ENST00000647209.1:c.*1136-56_*1136-37del ENSP00000495558.1:n.*1136-56_*1136-37del
ENST00000647346.1:n.2287-56_2287-37del
ENST00000299427.10:c.1267-56_1267-37del ENSP00000299427.6:n.1267-56_1267-37del
ENST00000524611.1:n.89_108del
ENST00000524924.1:n.222-56_222-37del
ENST00000532191.1:n.320-56_320-37del
ENST00000533371.5:c.538-56_538-37del ENSP00000437066.1:n.538-56_538-37del
ENST00000611494.4:c.1267-56_1267-37del ENSP00000484546.1:n.1267-56_1267-37del
NM_000391.3:c.1267-56_1267-37del NP_000382.3:n.1267-56_1267-37del
NM_000391.4:c.1267-56_1267-37del MANE Select NP_000382.3:n.1267-56_1267-37del