Canonical Allele Identifier: CA2697548409

Gene: TPP1

Linked Data

• ClinVar Variation Id: 2765609
• ClinVar RCV Id: RCV003578400

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617717_6617718dup , CM000673.2:g.6617717_6617718dup	GRCh38
NC_000011.9:g.6638948_6638949dup , CM000673.1:g.6638948_6638949dup	GRCh37
NC_000011.8:g.6595524_6595525dup	NCBI36
NG_008653.1:g.6744_6745dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.174_175dup	ENSP00000507321.1:p.His59ProfsTer19
ENST00000299427.12:c.288_289dup MANE Select	ENSP00000299427.6:p.His97ProfsTer19
ENST00000428886.7:n.376_377dup
ENST00000436873.7:c.92_93dup
ENST00000524788.2:n.1300_1301dup
ENST00000524903.2:n.1416_1417dup
ENST00000528571.6:c.*28_*29dup	ENSP00000434647.1:n.*28_*29dup
ENST00000530040.2:n.317_318dup
ENST00000533371.6:c.-442_-441dup	ENSP00000437066.1:n.-442_-441dup
ENST00000534644.6:n.289_290dup
ENST00000642892.1:c.-389_-388dup	ENSP00000494165.1:n.-389_-388dup
ENST00000643439.1:c.*28_*29dup	ENSP00000495849.1:n.*28_*29dup
ENST00000643479.1:n.317_318dup
ENST00000643516.1:c.175_176dup
ENST00000644151.1:n.1580_1581dup
ENST00000644218.1:c.288_289dup	ENSP00000493574.1:p.His97ProfsTer19
ENST00000644683.1:c.288_289dup	ENSP00000494085.1:p.His97ProfsTer19
ENST00000644810.1:c.230-565_230-564dup	ENSP00000495895.1:n.230-565_230-564dup
ENST00000644831.1:n.317_318dup
ENST00000644933.1:c.-442_-441dup	ENSP00000496133.1:n.-442_-441dup
ENST00000645020.1:n.1316_1317dup
ENST00000645285.1:c.-442_-441dup	ENSP00000495058.1:n.-442_-441dup
ENST00000645331.1:n.310_311dup
ENST00000645620.1:c.-384_-383dup	ENSP00000493657.1:n.-384_-383dup
ENST00000646777.1:n.317_318dup
ENST00000647016.1:n.621_622dup
ENST00000647152.1:c.-442_-441dup	ENSP00000495893.1:n.-442_-441dup
ENST00000647209.1:c.*157_*158dup	ENSP00000495558.1:n.*157_*158dup
ENST00000647346.1:n.1308_1309dup
ENST00000299427.10:c.288_289dup	ENSP00000299427.6:p.His97ProfsTer19
ENST00000428886.6:n.310_311dup
ENST00000436873.6:c.288_289dup	ENSP00000398136.2:p.His97ProfsTer19
ENST00000528571.5:c.*28_*29dup	ENSP00000434647.1:n.*28_*29dup
ENST00000530040.1:n.400_401dup
ENST00000533371.5:c.-442_-441dup	ENSP00000437066.1:n.-442_-441dup
ENST00000534644.5:n.273_274dup
ENST00000611494.4:c.288_289dup	ENSP00000484546.1:p.His97ProfsTer19
NM_000391.3:c.288_289dup	NP_000382.3:p.His97ProfsTer19
NM_000391.4:c.288_289dup MANE Select	NP_000382.3:p.His97ProfsTer19