Canonical Allele Identifier: CA2580084005

Gene: TPP1

Linked Data

• ClinVar Variation Id: 1725361
• ClinVar RCV Id: RCV002309045

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615531_6615532del , CM000673.2:g.6615531_6615532del	GRCh38
NC_000011.9:g.6636762_6636763del , CM000673.1:g.6636762_6636763del	GRCh37
NC_000011.8:g.6593338_6593339del	NCBI36
NG_008653.1:g.8930_8931del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1062_1063del	ENSP00000507321.1:p.Phe355ProfsTer9
ENST00000299427.12:c.1176_1177del MANE Select	ENSP00000299427.6:p.Phe393ProfsTer9
ENST00000436873.7:c.413_414del
ENST00000524924.2:n.296_297del
ENST00000533371.6:c.447_448del	ENSP00000437066.1:p.Phe150ProfsTer9
ENST00000642892.1:c.447_448del	ENSP00000494165.1:p.Phe150ProfsTer9
ENST00000643342.1:c.249_250del
ENST00000643439.1:c.*916_*917del	ENSP00000495849.1:n.*916_*917del
ENST00000643479.1:n.1362_1363del
ENST00000643516.1:c.685_686del
ENST00000644218.1:c.987_988del	ENSP00000493574.1:p.Phe330ProfsTer9
ENST00000644683.1:c.*629_*630del	ENSP00000494085.1:n.*629_*630del
ENST00000644810.1:c.897_898del	ENSP00000495895.1:p.Phe300ProfsTer9
ENST00000644831.1:n.1352_1353del
ENST00000644933.1:c.*42_*43del	ENSP00000496133.1:n.*42_*43del
ENST00000645285.1:c.*42_*43del	ENSP00000495058.1:n.*42_*43del
ENST00000645331.1:n.2381_2382del
ENST00000645620.1:c.447_448del	ENSP00000493657.1:p.Phe150ProfsTer9
ENST00000646691.1:n.951_952del
ENST00000646777.1:n.1509_1510del
ENST00000647016.1:n.1656_1657del
ENST00000647152.1:c.447_448del	ENSP00000495893.1:p.Phe150ProfsTer9
ENST00000647209.1:c.*1045_*1046del	ENSP00000495558.1:n.*1045_*1046del
ENST00000647346.1:n.2196_2197del
ENST00000299427.10:c.1176_1177del	ENSP00000299427.6:p.Phe393ProfsTer9
ENST00000524924.1:n.131_132del
ENST00000532191.1:n.229_230del
ENST00000533371.5:c.447_448del	ENSP00000437066.1:p.Phe150ProfsTer9
ENST00000611494.4:c.1176_1177del	ENSP00000484546.1:p.Phe393ProfsTer9
NM_000391.3:c.1176_1177del	NP_000382.3:p.Phe393ProfsTer9
NM_000391.4:c.1176_1177del MANE Select	NP_000382.3:p.Phe393ProfsTer9