Canonical Allele Identifier: CA2739276121

Gene: TPP1

Linked Data

• ClinVar Variation Id: 2825851
• ClinVar RCV Id: RCV003691431

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617390del , CM000673.2:g.6617390del	GRCh38
NC_000011.9:g.6638621del , CM000673.1:g.6638621del	GRCh37
NC_000011.8:g.6595197del	NCBI36
NG_008653.1:g.7072del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.305del	ENSP00000507321.1:p.His102ProfsTer12
ENST00000299427.12:c.419del MANE Select	ENSP00000299427.6:p.His140ProfsTer12
ENST00000428886.7:n.507del
ENST00000436873.7:c.223del
ENST00000524788.2:n.1431del
ENST00000524903.2:n.1547del
ENST00000528571.6:c.*159del	ENSP00000434647.1:n.*159del
ENST00000528807.2:n.75del
ENST00000530040.2:n.448del
ENST00000533371.6:c.-311del	ENSP00000437066.1:n.-311del
ENST00000534644.6:n.420del
ENST00000642892.1:c.-258del	ENSP00000494165.1:n.-258del
ENST00000643439.1:c.*159del	ENSP00000495849.1:n.*159del
ENST00000643479.1:n.448del
ENST00000643516.1:c.306del
ENST00000644151.1:n.1711del
ENST00000644218.1:c.419del	ENSP00000493574.1:p.His140ProfsTer12
ENST00000644683.1:c.419del	ENSP00000494085.1:p.His140ProfsTer28
ENST00000644810.1:c.230-237del	ENSP00000495895.1:n.230-237del
ENST00000644831.1:n.448del
ENST00000644933.1:c.-311del	ENSP00000496133.1:n.-311del
ENST00000645020.1:n.1447del
ENST00000645285.1:c.-311del	ENSP00000495058.1:n.-311del
ENST00000645331.1:n.638del
ENST00000645620.1:c.-253del	ENSP00000493657.1:n.-253del
ENST00000646777.1:n.448del
ENST00000647016.1:n.752del
ENST00000647152.1:c.-311del	ENSP00000495893.1:n.-311del
ENST00000647209.1:c.*288del	ENSP00000495558.1:n.*288del
ENST00000647346.1:n.1439del
ENST00000299427.10:c.419del	ENSP00000299427.6:p.His140ProfsTer12
ENST00000428886.6:n.441del
ENST00000436873.6:c.419del	ENSP00000398136.2:p.His140ProfsTer14
ENST00000528571.5:c.*159del	ENSP00000434647.1:n.*159del
ENST00000530040.1:n.531del
ENST00000533371.5:c.-311del	ENSP00000437066.1:n.-311del
ENST00000534644.5:n.404del
ENST00000611494.4:c.419del	ENSP00000484546.1:p.His140ProfsTer12
NM_000391.3:c.419del	NP_000382.3:p.His140ProfsTer12
NM_000391.4:c.419del MANE Select	NP_000382.3:p.His140ProfsTer12