Canonical Allele Identifier: CA1139661821

Gene: TPP1

Linked Data

• ClinVar Variation Id: 974574
• ClinVar RCV Id: RCV001250747
• dbSNP Id: rs1855599044

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617133del , CM000673.2:g.6617133del	GRCh38
NC_000011.9:g.6638364del , CM000673.1:g.6638364del	GRCh37
NC_000011.8:g.6594940del	NCBI36
NG_008653.1:g.7333del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.419del	ENSP00000507321.1:p.Pro140GlnfsTer5
ENST00000299427.12:c.533del MANE Select	ENSP00000299427.6:p.Pro178GlnfsTer5
ENST00000428886.7:n.768del
ENST00000436873.7:c.312+172del
ENST00000524788.2:n.1692del
ENST00000524903.2:n.1808del
ENST00000528807.2:n.189del
ENST00000530040.2:n.479+230del
ENST00000533371.6:c.-197del	ENSP00000437066.1:n.-197del
ENST00000534644.6:n.481del
ENST00000642892.1:c.-197del	ENSP00000494165.1:n.-197del
ENST00000643439.1:c.*273del	ENSP00000495849.1:n.*273del
ENST00000643479.1:n.562del
ENST00000643516.1:c.395+172del
ENST00000644151.1:n.1972del
ENST00000644218.1:c.533del	ENSP00000493574.1:p.Pro178GlnfsTer5
ENST00000644683.1:c.475del	ENSP00000494085.1:p.Gln159AsnfsTer9
ENST00000644810.1:c.254del	ENSP00000495895.1:p.Pro85GlnfsTer5
ENST00000644831.1:n.709del
ENST00000644933.1:c.-197del	ENSP00000496133.1:n.-197del
ENST00000645020.1:n.1708del
ENST00000645285.1:c.-197del	ENSP00000495058.1:n.-197del
ENST00000645331.1:n.899del
ENST00000645620.1:c.-197del	ENSP00000493657.1:n.-197del
ENST00000646777.1:n.709del
ENST00000647016.1:n.1013del
ENST00000647152.1:c.-197del	ENSP00000495893.1:n.-197del
ENST00000647209.1:c.*402del	ENSP00000495558.1:n.*402del
ENST00000647346.1:n.1553del
ENST00000299427.10:c.533del	ENSP00000299427.6:p.Pro178GlnfsTer5
ENST00000428886.6:n.702del
ENST00000436873.6:c.450+230del	ENSP00000398136.2:n.450+230del
ENST00000524788.1:n.233del
ENST00000528571.5:c.*273del	ENSP00000434647.1:n.*273del
ENST00000528807.1:n.83del
ENST00000533371.5:c.-197del	ENSP00000437066.1:n.-197del
ENST00000534644.5:n.518del
ENST00000611494.4:c.533del	ENSP00000484546.1:p.Pro178GlnfsTer5
NM_000391.3:c.533del	NP_000382.3:p.Pro178GlnfsTer5
NM_000391.4:c.533del MANE Select	NP_000382.3:p.Pro178GlnfsTer5