Canonical Allele Identifier: CA2695213216

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616042_6616043del , CM000673.2:g.6616042_6616043del	GRCh38
NC_000011.9:g.6637273_6637274del , CM000673.1:g.6637273_6637274del	GRCh37
NC_000011.8:g.6593849_6593850del	NCBI36
NG_008653.1:g.8419_8420del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.993_994del	ENSP00000507321.1:p.Gly332LysfsTer?
ENST00000299427.12:c.1107_1108del MANE Select	ENSP00000299427.6:p.Gly370LysfsTer?
ENST00000436873.7:c.344_345del
ENST00000524924.2:n.227_228del
ENST00000533371.6:c.378_379del	ENSP00000437066.1:p.Gly127LysfsTer?
ENST00000642892.1:c.378_379del	ENSP00000494165.1:p.Gly127LysfsTer?
ENST00000643342.1:c.197_198del
ENST00000643439.1:c.*847_*848del	ENSP00000495849.1:n.*847_*848del
ENST00000643479.1:n.1293_1294del
ENST00000643516.1:c.616_617del
ENST00000644218.1:c.918_919del	ENSP00000493574.1:p.Gly307LysfsTer?
ENST00000644683.1:c.*560_*561del	ENSP00000494085.1:n.*560_*561del
ENST00000644810.1:c.828_829del	ENSP00000495895.1:p.Gly277LysfsTer?
ENST00000644831.1:n.1283_1284del
ENST00000644933.1:c.378_379del	ENSP00000496133.1:p.Gly127LysfsTer?
ENST00000645285.1:c.189_190del	ENSP00000495058.1:p.Gly64LysfsTer?
ENST00000645331.1:n.1870_1871del
ENST00000645620.1:c.378_379del	ENSP00000493657.1:p.Gly127LysfsTer?
ENST00000646691.1:n.440_441del
ENST00000646777.1:n.1440_1441del
ENST00000647016.1:n.1587_1588del
ENST00000647152.1:c.378_379del	ENSP00000495893.1:p.Gly127LysfsTer?
ENST00000647209.1:c.*976_*977del	ENSP00000495558.1:n.*976_*977del
ENST00000647346.1:n.2127_2128del
ENST00000299427.10:c.1107_1108del	ENSP00000299427.6:p.Gly370LysfsTer?
ENST00000524924.1:n.62_63del
ENST00000533371.5:c.378_379del	ENSP00000437066.1:p.Gly127LysfsTer?
ENST00000611494.4:c.1107_1108del	ENSP00000484546.1:p.Gly370LysfsTer?
NM_000391.3:c.1107_1108del	NP_000382.3:p.Gly370LysfsTer?
NM_000391.4:c.1107_1108del MANE Select	NP_000382.3:p.Gly370LysfsTer?