Canonical Allele Identifier: CA2574741201

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615465_6615466del , CM000673.2:g.6615465_6615466del	GRCh38
NC_000011.9:g.6636696_6636697del , CM000673.1:g.6636696_6636697del	GRCh37
NC_000011.8:g.6593272_6593273del	NCBI36
NG_008653.1:g.8999_9000del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1131_1132del	ENSP00000507321.1:p.Phe378ProfsTer17
ENST00000299427.12:c.1245_1246del MANE Select	ENSP00000299427.6:p.Phe416ProfsTer17
ENST00000436873.7:c.482_483del
ENST00000524924.2:n.365_366del
ENST00000533371.6:c.516_517del	ENSP00000437066.1:p.Phe173ProfsTer17
ENST00000642892.1:c.516_517del	ENSP00000494165.1:p.Phe173ProfsTer17
ENST00000643342.1:c.318_319del
ENST00000643439.1:c.*985_*986del	ENSP00000495849.1:n.*985_*986del
ENST00000643479.1:n.1431_1432del
ENST00000643516.1:c.754_755del
ENST00000644218.1:c.1056_1057del	ENSP00000493574.1:p.Phe353ProfsTer17
ENST00000644683.1:c.*698_*699del	ENSP00000494085.1:n.*698_*699del
ENST00000644810.1:c.966_967del	ENSP00000495895.1:p.Phe323ProfsTer17
ENST00000644831.1:n.1421_1422del
ENST00000644933.1:c.*111_*112del	ENSP00000496133.1:n.*111_*112del
ENST00000645285.1:c.*111_*112del	ENSP00000495058.1:n.*111_*112del
ENST00000645331.1:n.2450_2451del
ENST00000645620.1:c.516_517del	ENSP00000493657.1:p.Phe173ProfsTer17
ENST00000646691.1:n.1020_1021del
ENST00000646777.1:n.1578_1579del
ENST00000647016.1:n.1725_1726del
ENST00000647152.1:c.516_517del	ENSP00000495893.1:p.Phe173ProfsTer17
ENST00000647209.1:c.*1114_*1115del	ENSP00000495558.1:n.*1114_*1115del
ENST00000647346.1:n.2265_2266del
ENST00000299427.10:c.1245_1246del	ENSP00000299427.6:p.Phe416ProfsTer17
ENST00000524611.1:n.11_12del
ENST00000524924.1:n.200_201del
ENST00000532191.1:n.298_299del
ENST00000533371.5:c.516_517del	ENSP00000437066.1:p.Phe173ProfsTer17
ENST00000611494.4:c.1245_1246del	ENSP00000484546.1:p.Phe416ProfsTer17
NM_000391.3:c.1245_1246del	NP_000382.3:p.Phe416ProfsTer17
NM_000391.4:c.1245_1246del MANE Select	NP_000382.3:p.Phe416ProfsTer17