Canonical Allele Identifier: CA2790314277
Gene: TPP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6616500_6616501insAGAA , CM000673.2:g.6616500_6616501insAGAA GRCh38
NC_000011.9:g.6637731_6637732insAGAA , CM000673.1:g.6637731_6637732insAGAA GRCh37
NC_000011.8:g.6594307_6594308insAGAA NCBI36
NG_008653.1:g.7961_7962insTTCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.775_776insTTCT ENSP00000507321.1:p.Arg259LeufsTer4
ENST00000299427.12:c.889_890insTTCT MANE Select ENSP00000299427.6:p.Arg297LeufsTer4
ENST00000436873.7:c.313-427_313-426insTTCT
ENST00000530040.2:n.482_483insTTCT
ENST00000533371.6:c.160_161insTTCT ENSP00000437066.1:p.Arg54LeufsTer4
ENST00000642892.1:c.160_161insTTCT ENSP00000494165.1:p.Arg54LeufsTer4
ENST00000643439.1:c.*629_*630insTTCT ENSP00000495849.1:n.*629_*630insTTCT
ENST00000643479.1:n.1075_1076insTTCT
ENST00000643516.1:c.398_399insTTCT
ENST00000644218.1:c.886+160_886+161insTTCT ENSP00000493574.1:n.886+160_886+161insTTCT
ENST00000644683.1:c.*342_*343insTTCT ENSP00000494085.1:n.*342_*343insTTCT
ENST00000644810.1:c.610_611insTTCT ENSP00000495895.1:p.Arg204LeufsTer4
ENST00000644831.1:n.1065_1066insTTCT
ENST00000644933.1:c.160_161insTTCT ENSP00000496133.1:p.Arg54LeufsTer4
ENST00000645285.1:c.157+160_157+161insTTCT ENSP00000495058.1:n.157+160_157+161insTTCT
ENST00000645331.1:n.1412_1413insTTCT
ENST00000645620.1:c.160_161insTTCT ENSP00000493657.1:p.Arg54LeufsTer4
ENST00000646777.1:n.1222_1223insTTCT
ENST00000647016.1:n.1369_1370insTTCT
ENST00000647152.1:c.160_161insTTCT ENSP00000495893.1:p.Arg54LeufsTer4
ENST00000647209.1:c.*758_*759insTTCT ENSP00000495558.1:n.*758_*759insTTCT
ENST00000647346.1:n.1909_1910insTTCT
ENST00000299427.10:c.889_890insTTCT ENSP00000299427.6:p.Arg297LeufsTer4
ENST00000436873.6:c.453_454insTTCT ENSP00000398136.2:p.Gly152PhefsTer?
ENST00000533371.5:c.160_161insTTCT ENSP00000437066.1:p.Arg54LeufsTer4
ENST00000611494.4:c.889_890insTTCT ENSP00000484546.1:p.Arg297LeufsTer4
NM_000391.3:c.889_890insTTCT NP_000382.3:p.Arg297LeufsTer4
NM_000391.4:c.889_890insTTCT MANE Select NP_000382.3:p.Arg297LeufsTer4