Canonical Allele Identifier: CA2612256972
Gene: TPP1 HGNC NCBI

Linked Data

dbSNP Id: rs2134591582

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6615197_6615198insTGT , CM000673.2:g.6615197_6615198insTGT GRCh38
NC_000011.9:g.6636428_6636429insTGT , CM000673.1:g.6636428_6636429insTGT GRCh37
NC_000011.8:g.6593004_6593005insTGT NCBI36
NG_008653.1:g.9264_9265insACA

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.1284_1285insACA ENSP00000507321.1:p.Val428_Pro429insThr
ENST00000299427.12:c.1398_1399insACA MANE Select ENSP00000299427.6:p.Val466_Pro467insThr
ENST00000524611.2:n.258_259insACA
ENST00000524924.2:n.518_519insACA
ENST00000533371.6:c.669_670insACA ENSP00000437066.1:p.Val223_Pro224insThr
ENST00000642892.1:c.669_670insACA ENSP00000494165.1:p.Val223_Pro224insThr
ENST00000643342.1:c.471_472insACA
ENST00000643439.1:c.*1138_*1139insACA ENSP00000495849.1:n.*1138_*1139insACA
ENST00000643479.1:n.1584_1585insACA
ENST00000643516.1:c.907_908insACA
ENST00000644218.1:c.1209_1210insACA ENSP00000493574.1:p.Val403_Pro404insThr
ENST00000644683.1:c.*851_*852insACA ENSP00000494085.1:n.*851_*852insACA
ENST00000644810.1:c.1119_1120insACA ENSP00000495895.1:p.Val373_Pro374insThr
ENST00000644831.1:n.1574_1575insACA
ENST00000644933.1:c.*264_*265insACA ENSP00000496133.1:n.*264_*265insACA
ENST00000645285.1:c.*264_*265insACA ENSP00000495058.1:n.*264_*265insACA
ENST00000645331.1:n.2603_2604insACA
ENST00000645620.1:c.669_670insACA ENSP00000493657.1:p.Val223_Pro224insThr
ENST00000646691.1:n.1285_1286insACA
ENST00000646777.1:n.1731_1732insACA
ENST00000647016.1:n.1878_1879insACA
ENST00000647152.1:c.669_670insACA ENSP00000495893.1:p.Val223_Pro224insThr
ENST00000647209.1:c.*1267_*1268insACA ENSP00000495558.1:n.*1267_*1268insACA
ENST00000647346.1:n.2418_2419insACA
ENST00000299427.10:c.1398_1399insACA ENSP00000299427.6:p.Val466_Pro467insThr
ENST00000524611.1:n.276_277insACA
ENST00000533371.5:c.669_670insACA ENSP00000437066.1:p.Val223_Pro224insThr
ENST00000611494.4:c.1398_1399insACA ENSP00000484546.1:p.Val466_Pro467insThr
NM_000391.3:c.1398_1399insACA NP_000382.3:p.Val466_Pro467insThr
NM_000391.4:c.1398_1399insACA MANE Select NP_000382.3:p.Val466_Pro467insThr