Canonical Allele Identifier: CA2695213228

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617401_6617404dup , CM000673.2:g.6617401_6617404dup	GRCh38
NC_000011.9:g.6638632_6638635dup , CM000673.1:g.6638632_6638635dup	GRCh37
NC_000011.8:g.6595208_6595211dup	NCBI36
NG_008653.1:g.7059_7062dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.292_295dup	ENSP00000507321.1:p.Glu99GlyfsTer2
ENST00000299427.12:c.406_409dup MANE Select	ENSP00000299427.6:p.Glu137GlyfsTer2
ENST00000428886.7:n.494_497dup
ENST00000436873.7:c.210_213dup
ENST00000524788.2:n.1418_1421dup
ENST00000524903.2:n.1534_1537dup
ENST00000528571.6:c.*146_*149dup	ENSP00000434647.1:n.*146_*149dup
ENST00000528807.2:n.62_65dup
ENST00000530040.2:n.435_438dup
ENST00000533371.6:c.-324_-321dup	ENSP00000437066.1:n.-324_-321dup
ENST00000534644.6:n.407_410dup
ENST00000642892.1:c.-271_-268dup	ENSP00000494165.1:n.-271_-268dup
ENST00000643439.1:c.*146_*149dup	ENSP00000495849.1:n.*146_*149dup
ENST00000643479.1:n.435_438dup
ENST00000643516.1:c.293_296dup
ENST00000644151.1:n.1698_1701dup
ENST00000644218.1:c.406_409dup	ENSP00000493574.1:p.Glu137GlyfsTer2
ENST00000644683.1:c.406_409dup	ENSP00000494085.1:p.Glu137GlyfsTer2
ENST00000644810.1:c.230-250_230-247dup	ENSP00000495895.1:n.230-250_230-247dup
ENST00000644831.1:n.435_438dup
ENST00000644933.1:c.-324_-321dup	ENSP00000496133.1:n.-324_-321dup
ENST00000645020.1:n.1434_1437dup
ENST00000645285.1:c.-324_-321dup	ENSP00000495058.1:n.-324_-321dup
ENST00000645331.1:n.625_628dup
ENST00000645620.1:c.-266_-263dup	ENSP00000493657.1:n.-266_-263dup
ENST00000646777.1:n.435_438dup
ENST00000647016.1:n.739_742dup
ENST00000647152.1:c.-324_-321dup	ENSP00000495893.1:n.-324_-321dup
ENST00000647209.1:c.*275_*278dup	ENSP00000495558.1:n.*275_*278dup
ENST00000647346.1:n.1426_1429dup
ENST00000299427.10:c.406_409dup	ENSP00000299427.6:p.Glu137GlyfsTer2
ENST00000428886.6:n.428_431dup
ENST00000436873.6:c.406_409dup	ENSP00000398136.2:p.Glu137GlyfsTer2
ENST00000528571.5:c.*146_*149dup	ENSP00000434647.1:n.*146_*149dup
ENST00000530040.1:n.518_521dup
ENST00000533371.5:c.-324_-321dup	ENSP00000437066.1:n.-324_-321dup
ENST00000534644.5:n.391_394dup
ENST00000611494.4:c.406_409dup	ENSP00000484546.1:p.Glu137GlyfsTer2
NM_000391.3:c.406_409dup	NP_000382.3:p.Glu137GlyfsTer2
NM_000391.4:c.406_409dup MANE Select	NP_000382.3:p.Glu137GlyfsTer2