Canonical Allele Identifier: CA2695213210

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614684del , CM000673.2:g.6614684del	GRCh38
NC_000011.9:g.6635915del , CM000673.1:g.6635915del	GRCh37
NC_000011.8:g.6592491del	NCBI36
NG_008653.1:g.9779del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1441del	ENSP00000507321.1:p.Thr481ProfsTer13
ENST00000299427.12:c.1555del MANE Select	ENSP00000299427.6:p.Thr519ProfsTer13
ENST00000524611.2:n.594del
ENST00000524924.2:n.675del
ENST00000533371.6:c.826del	ENSP00000437066.1:p.Thr276ProfsTer13
ENST00000642892.1:c.826del	ENSP00000494165.1:p.Thr276ProfsTer13
ENST00000643342.1:c.628del
ENST00000643439.1:c.*1295del	ENSP00000495849.1:n.*1295del
ENST00000643479.1:n.1741del
ENST00000643516.1:c.1064del
ENST00000644218.1:c.1366del	ENSP00000493574.1:p.Thr456ProfsTer13
ENST00000644683.1:c.*1008del	ENSP00000494085.1:n.*1008del
ENST00000644810.1:c.1276del	ENSP00000495895.1:p.Thr426ProfsTer13
ENST00000644831.1:n.1731del
ENST00000644933.1:c.*421del	ENSP00000496133.1:n.*421del
ENST00000645285.1:c.*421del	ENSP00000495058.1:n.*421del
ENST00000645331.1:n.2760del
ENST00000645620.1:c.826del	ENSP00000493657.1:p.Thr276ProfsTer13
ENST00000646691.1:n.1442del
ENST00000646777.1:n.1888del
ENST00000647016.1:n.2035del
ENST00000647152.1:c.826del	ENSP00000495893.1:p.Thr276ProfsTer13
ENST00000647209.1:c.*1424del	ENSP00000495558.1:n.*1424del
ENST00000647346.1:n.2575del
ENST00000299427.10:c.1555del	ENSP00000299427.6:p.Thr519ProfsTer13
ENST00000524611.1:n.433del
ENST00000533371.5:c.826del	ENSP00000437066.1:p.Thr276ProfsTer13
ENST00000611494.4:c.1555del	ENSP00000484546.1:p.Thr519ProfsTer13
NM_000391.3:c.1555del	NP_000382.3:p.Thr519ProfsTer13
NM_000391.4:c.1555del MANE Select	NP_000382.3:p.Thr519ProfsTer13