Canonical Allele Identifier: CA2612256378

Gene: TPP1

Linked Data

• gnomAD v4: 11-6617641-CAAGTCAGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617647_6617654del , CM000673.2:g.6617647_6617654del	GRCh38
NC_000011.9:g.6638878_6638885del , CM000673.1:g.6638878_6638885del	GRCh37
NC_000011.8:g.6595454_6595461del	NCBI36
NG_008653.1:g.6813_6820del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.243_250del	ENSP00000507321.1:p.Phe81LeufsTer16
ENST00000299427.12:c.357_364del MANE Select	ENSP00000299427.6:p.Phe119LeufsTer16
ENST00000428886.7:n.445_452del
ENST00000436873.7:c.161_168del
ENST00000524788.2:n.1369_1376del
ENST00000524903.2:n.1485_1492del
ENST00000528571.6:c.*97_*104del	ENSP00000434647.1:n.*97_*104del
ENST00000530040.2:n.386_393del
ENST00000533371.6:c.-373_-366del	ENSP00000437066.1:n.-373_-366del
ENST00000534644.6:n.358_365del
ENST00000642892.1:c.-320_-313del	ENSP00000494165.1:n.-320_-313del
ENST00000643439.1:c.*97_*104del	ENSP00000495849.1:n.*97_*104del
ENST00000643479.1:n.386_393del
ENST00000643516.1:c.244_251del
ENST00000644151.1:n.1649_1656del
ENST00000644218.1:c.357_364del	ENSP00000493574.1:p.Phe119LeufsTer16
ENST00000644683.1:c.357_364del	ENSP00000494085.1:p.Phe119LeufsTer16
ENST00000644810.1:c.230-496_230-489del	ENSP00000495895.1:n.230-496_230-489del
ENST00000644831.1:n.386_393del
ENST00000644933.1:c.-373_-366del	ENSP00000496133.1:n.-373_-366del
ENST00000645020.1:n.1385_1392del
ENST00000645285.1:c.-373_-366del	ENSP00000495058.1:n.-373_-366del
ENST00000645331.1:n.379_386del
ENST00000645620.1:c.-315_-308del	ENSP00000493657.1:n.-315_-308del
ENST00000646777.1:n.386_393del
ENST00000647016.1:n.690_697del
ENST00000647152.1:c.-373_-366del	ENSP00000495893.1:n.-373_-366del
ENST00000647209.1:c.*226_*233del	ENSP00000495558.1:n.*226_*233del
ENST00000647346.1:n.1377_1384del
ENST00000299427.10:c.357_364del	ENSP00000299427.6:p.Phe119LeufsTer16
ENST00000428886.6:n.379_386del
ENST00000436873.6:c.357_364del	ENSP00000398136.2:p.Phe119LeufsTer16
ENST00000528571.5:c.*97_*104del	ENSP00000434647.1:n.*97_*104del
ENST00000530040.1:n.469_476del
ENST00000533371.5:c.-373_-366del	ENSP00000437066.1:n.-373_-366del
ENST00000534644.5:n.342_349del
ENST00000611494.4:c.357_364del	ENSP00000484546.1:p.Phe119LeufsTer16
NM_000391.3:c.357_364del	NP_000382.3:p.Phe119LeufsTer16
NM_000391.4:c.357_364del MANE Select	NP_000382.3:p.Phe119LeufsTer16