Canonical Allele Identifier: CA2612258035

Gene: TPP1

Linked Data

• gnomAD v4: 11-6616363-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616364_6616365del , CM000673.2:g.6616364_6616365del	GRCh38
NC_000011.9:g.6637595_6637596del , CM000673.1:g.6637595_6637596del	GRCh37
NC_000011.8:g.6594171_6594172del	NCBI36
NG_008653.1:g.8097_8098del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.911_912del	ENSP00000507321.1:p.Thr304ArgfsTer18
ENST00000299427.12:c.1025_1026del MANE Select	ENSP00000299427.6:p.Thr342ArgfsTer18
ENST00000436873.7:c.313-291_313-290del
ENST00000533371.6:c.296_297del	ENSP00000437066.1:p.Thr99ArgfsTer18
ENST00000642892.1:c.296_297del	ENSP00000494165.1:p.Thr99ArgfsTer18
ENST00000643342.1:c.115_116del
ENST00000643439.1:c.*765_*766del	ENSP00000495849.1:n.*765_*766del
ENST00000643479.1:n.1211_1212del
ENST00000643516.1:c.534_535del
ENST00000644218.1:c.887-291_887-290del	ENSP00000493574.1:n.887-291_887-290del
ENST00000644683.1:c.*478_*479del	ENSP00000494085.1:n.*478_*479del
ENST00000644810.1:c.746_747del	ENSP00000495895.1:p.Thr249ArgfsTer18
ENST00000644831.1:n.1201_1202del
ENST00000644933.1:c.296_297del	ENSP00000496133.1:p.Thr99ArgfsTer18
ENST00000645285.1:c.158-291_158-290del	ENSP00000495058.1:n.158-291_158-290del
ENST00000645331.1:n.1548_1549del
ENST00000645620.1:c.296_297del	ENSP00000493657.1:p.Thr99ArgfsTer18
ENST00000646691.1:n.118_119del
ENST00000646777.1:n.1358_1359del
ENST00000647016.1:n.1505_1506del
ENST00000647152.1:c.296_297del	ENSP00000495893.1:p.Thr99ArgfsTer18
ENST00000647209.1:c.*894_*895del	ENSP00000495558.1:n.*894_*895del
ENST00000647346.1:n.2045_2046del
ENST00000299427.10:c.1025_1026del	ENSP00000299427.6:p.Thr342ArgfsTer18
ENST00000533371.5:c.296_297del	ENSP00000437066.1:p.Thr99ArgfsTer18
ENST00000611494.4:c.1025_1026del	ENSP00000484546.1:p.Thr342ArgfsTer18
NM_000391.3:c.1025_1026del	NP_000382.3:p.Thr342ArgfsTer18
NM_000391.4:c.1025_1026del MANE Select	NP_000382.3:p.Thr342ArgfsTer18