Canonical Allele Identifier: CA679350195

Gene: TPP1

Linked Data

• dbSNP Id: rs1336233783
• MyVariant Identifiers: chr11:g.6637900_6637901insT (hg19) ; chr11:g.6616669_6616670insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616670dup , CM000673.2:g.6616670dup	GRCh38
NC_000011.9:g.6637901dup , CM000673.1:g.6637901dup	GRCh37
NC_000011.8:g.6594477dup	NCBI36
NG_008653.1:g.7792dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.763dup	ENSP00000507321.1:p.Ser255LysfsTer2
ENST00000299427.12:c.877dup MANE Select	ENSP00000299427.6:p.Ser293LysfsTer2
ENST00000436873.7:c.313-596dup
ENST00000524788.2:n.2036dup
ENST00000524903.2:n.2152dup
ENST00000528807.2:n.533dup
ENST00000530040.2:n.480-167dup
ENST00000533371.6:c.148dup	ENSP00000437066.1:p.Ser50LysfsTer2
ENST00000642892.1:c.148dup	ENSP00000494165.1:p.Ser50LysfsTer2
ENST00000643439.1:c.*617dup	ENSP00000495849.1:n.*617dup
ENST00000643479.1:n.906dup
ENST00000643516.1:c.396-167dup
ENST00000644151.1:n.2316dup
ENST00000644218.1:c.877dup	ENSP00000493574.1:p.Ser293LysfsTer2
ENST00000644683.1:c.*330dup	ENSP00000494085.1:n.*330dup
ENST00000644810.1:c.598dup	ENSP00000495895.1:p.Ser200LysfsTer2
ENST00000644831.1:n.1053dup
ENST00000644933.1:c.148dup	ENSP00000496133.1:p.Ser50LysfsTer2
ENST00000645020.1:n.2167dup
ENST00000645285.1:c.148dup	ENSP00000495058.1:p.Ser50LysfsTer2
ENST00000645331.1:n.1243dup
ENST00000645620.1:c.148dup	ENSP00000493657.1:p.Ser50LysfsTer2
ENST00000646777.1:n.1053dup
ENST00000647016.1:n.1357dup
ENST00000647152.1:c.148dup	ENSP00000495893.1:p.Ser50LysfsTer2
ENST00000647209.1:c.*746dup	ENSP00000495558.1:n.*746dup
ENST00000647346.1:n.1897dup
ENST00000299427.10:c.877dup	ENSP00000299427.6:p.Ser293LysfsTer2
ENST00000436873.6:c.451-167dup	ENSP00000398136.2:n.451-167dup
ENST00000528807.1:n.427dup
ENST00000533371.5:c.148dup	ENSP00000437066.1:p.Ser50LysfsTer2
ENST00000611494.4:c.877dup	ENSP00000484546.1:p.Ser293LysfsTer2
NM_000391.3:c.877dup	NP_000382.3:p.Ser293LysfsTer2
NM_000391.4:c.877dup MANE Select	NP_000382.3:p.Ser293LysfsTer2