Canonical Allele Identifier: CA2580083973

Gene: TPP1

Linked Data

• ClinVar Variation Id: 1724964
• ClinVar RCV Id: RCV002308023

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617736_6617744delinsAT , CM000673.2:g.6617736_6617744delinsAT	GRCh38
NC_000011.9:g.6638967_6638975delinsAT , CM000673.1:g.6638967_6638975delinsAT	GRCh37
NC_000011.8:g.6595543_6595551delinsAT	NCBI36
NG_008653.1:g.6718_6726delinsAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.148_156delinsAT	ENSP00000507321.1:p.Leu50IlefsTer5
ENST00000299427.12:c.262_270delinsAT MANE Select	ENSP00000299427.6:p.Leu88IlefsTer5
ENST00000428886.7:n.350_358delinsAT
ENST00000436873.7:c.66_74delinsAT
ENST00000524788.2:n.1274_1282delinsAT
ENST00000524903.2:n.1390_1398delinsAT
ENST00000528571.6:c.*2_*10delinsAT	ENSP00000434647.1:n.*2_*10delinsAT
ENST00000530040.2:n.291_299delinsAT
ENST00000533371.6:c.-468_-460delinsAT	ENSP00000437066.1:n.-468_-460delinsAT
ENST00000534644.6:n.263_271delinsAT
ENST00000642892.1:c.-415_-407delinsAT	ENSP00000494165.1:n.-415_-407delinsAT
ENST00000643439.1:c.*2_*10delinsAT	ENSP00000495849.1:n.*2_*10delinsAT
ENST00000643479.1:n.291_299delinsAT
ENST00000643516.1:c.149_157delinsAT
ENST00000644151.1:n.1554_1562delinsAT
ENST00000644218.1:c.262_270delinsAT	ENSP00000493574.1:p.Leu88IlefsTer5
ENST00000644683.1:c.262_270delinsAT	ENSP00000494085.1:p.Leu88IlefsTer5
ENST00000644810.1:c.230-591_230-583delinsAT	ENSP00000495895.1:n.230-591_230-583delins...
ENST00000644831.1:n.291_299delinsAT
ENST00000644933.1:c.-468_-460delinsAT	ENSP00000496133.1:n.-468_-460delinsAT
ENST00000645020.1:n.1290_1298delinsAT
ENST00000645285.1:c.-468_-460delinsAT	ENSP00000495058.1:n.-468_-460delinsAT
ENST00000645331.1:n.284_292delinsAT
ENST00000645620.1:c.-410_-402delinsAT	ENSP00000493657.1:n.-410_-402delinsAT
ENST00000646777.1:n.291_299delinsAT
ENST00000647016.1:n.595_603delinsAT
ENST00000647152.1:c.-468_-460delinsAT	ENSP00000495893.1:n.-468_-460delinsAT
ENST00000647209.1:c.*131_*139delinsAT	ENSP00000495558.1:n.*131_*139delinsAT
ENST00000647346.1:n.1282_1290delinsAT
ENST00000299427.10:c.262_270delinsAT	ENSP00000299427.6:p.Leu88IlefsTer5
ENST00000428886.6:n.284_292delinsAT
ENST00000436873.6:c.262_270delinsAT	ENSP00000398136.2:p.Leu88IlefsTer5
ENST00000528571.5:c.*2_*10delinsAT	ENSP00000434647.1:n.*2_*10delinsAT
ENST00000530040.1:n.374_382delinsAT
ENST00000533371.5:c.-468_-460delinsAT	ENSP00000437066.1:n.-468_-460delinsAT
ENST00000534644.5:n.247_255delinsAT
ENST00000611494.4:c.262_270delinsAT	ENSP00000484546.1:p.Leu88IlefsTer5
NM_000391.3:c.262_270delinsAT	NP_000382.3:p.Leu88IlefsTer5
NM_000391.4:c.262_270delinsAT MANE Select	NP_000382.3:p.Leu88IlefsTer5