Canonical Allele Identifier: CA2574741365

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617399_6617400del , CM000673.2:g.6617399_6617400del	GRCh38
NC_000011.9:g.6638630_6638631del , CM000673.1:g.6638630_6638631del	GRCh37
NC_000011.8:g.6595206_6595207del	NCBI36
NG_008653.1:g.7063_7064del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.296_297del	ENSP00000507321.1:p.Glu99ValfsTer?
ENST00000299427.12:c.410_411del MANE Select	ENSP00000299427.6:p.Glu137ValfsTer?
ENST00000428886.7:n.498_499del
ENST00000436873.7:c.214_215del
ENST00000524788.2:n.1422_1423del
ENST00000524903.2:n.1538_1539del
ENST00000528571.6:c.*150_*151del	ENSP00000434647.1:n.*150_*151del
ENST00000528807.2:n.66_67del
ENST00000530040.2:n.439_440del
ENST00000533371.6:c.-320_-319del	ENSP00000437066.1:n.-320_-319del
ENST00000534644.6:n.411_412del
ENST00000642892.1:c.-267_-266del	ENSP00000494165.1:n.-267_-266del
ENST00000643439.1:c.*150_*151del	ENSP00000495849.1:n.*150_*151del
ENST00000643479.1:n.439_440del
ENST00000643516.1:c.297_298del
ENST00000644151.1:n.1702_1703del
ENST00000644218.1:c.410_411del	ENSP00000493574.1:p.Glu137ValfsTer?
ENST00000644683.1:c.410_411del	ENSP00000494085.1:p.Glu137ValfsTer?
ENST00000644810.1:c.230-246_230-245del	ENSP00000495895.1:n.230-246_230-245del
ENST00000644831.1:n.439_440del
ENST00000644933.1:c.-320_-319del	ENSP00000496133.1:n.-320_-319del
ENST00000645020.1:n.1438_1439del
ENST00000645285.1:c.-320_-319del	ENSP00000495058.1:n.-320_-319del
ENST00000645331.1:n.629_630del
ENST00000645620.1:c.-262_-261del	ENSP00000493657.1:n.-262_-261del
ENST00000646777.1:n.439_440del
ENST00000647016.1:n.743_744del
ENST00000647152.1:c.-320_-319del	ENSP00000495893.1:n.-320_-319del
ENST00000647209.1:c.*279_*280del	ENSP00000495558.1:n.*279_*280del
ENST00000647346.1:n.1430_1431del
ENST00000299427.10:c.410_411del	ENSP00000299427.6:p.Glu137ValfsTer?
ENST00000428886.6:n.432_433del
ENST00000436873.6:c.410_411del	ENSP00000398136.2:p.Glu137ValfsTer?
ENST00000528571.5:c.*150_*151del	ENSP00000434647.1:n.*150_*151del
ENST00000530040.1:n.522_523del
ENST00000533371.5:c.-320_-319del	ENSP00000437066.1:n.-320_-319del
ENST00000534644.5:n.395_396del
ENST00000611494.4:c.410_411del	ENSP00000484546.1:p.Glu137ValfsTer?
NM_000391.3:c.410_411del	NP_000382.3:p.Glu137ValfsTer?
NM_000391.4:c.410_411del MANE Select	NP_000382.3:p.Glu137ValfsTer?