Canonical Allele Identifier: CA658822368

Gene: TPP1

Linked Data

• ClinVar Variation Id: 559477
• ClinVar RCV Id: RCV000677174
• dbSNP Id: rs1554901898
• MyVariant Identifiers: chr11:g.6638089del (hg19) ; chr11:g.6616858del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616859del , CM000673.2:g.6616859del	GRCh38
NC_000011.9:g.6638090del , CM000673.1:g.6638090del	GRCh37
NC_000011.8:g.6594666del	NCBI36
NG_008653.1:g.7604del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.575del	ENSP00000507321.1:p.Phe192SerfsTer28
ENST00000299427.12:c.689del MANE Select	ENSP00000299427.6:p.Phe230SerfsTer28
ENST00000436873.7:c.312+443del
ENST00000524788.2:n.1848del
ENST00000524903.2:n.1964del
ENST00000528807.2:n.345del
ENST00000530040.2:n.480-355del
ENST00000533371.6:c.-41del	ENSP00000437066.1:n.-41del
ENST00000642892.1:c.-41del	ENSP00000494165.1:n.-41del
ENST00000643439.1:c.*429del	ENSP00000495849.1:n.*429del
ENST00000643479.1:n.718del
ENST00000643516.1:c.396-355del
ENST00000644151.1:n.2128del
ENST00000644218.1:c.689del	ENSP00000493574.1:p.Phe230SerfsTer28
ENST00000644683.1:c.*142del	ENSP00000494085.1:n.*142del
ENST00000644810.1:c.410del	ENSP00000495895.1:p.Phe137SerfsTer28
ENST00000644831.1:n.865del
ENST00000644933.1:c.-41del	ENSP00000496133.1:n.-41del
ENST00000645020.1:n.1979del
ENST00000645285.1:c.-41del	ENSP00000495058.1:n.-41del
ENST00000645331.1:n.1055del
ENST00000645620.1:c.-41del	ENSP00000493657.1:n.-41del
ENST00000646777.1:n.865del
ENST00000647016.1:n.1169del
ENST00000647152.1:c.-41del	ENSP00000495893.1:n.-41del
ENST00000647209.1:c.*558del	ENSP00000495558.1:n.*558del
ENST00000647346.1:n.1709del
ENST00000299427.10:c.689del	ENSP00000299427.6:p.Phe230SerfsTer28
ENST00000436873.6:c.451-355del	ENSP00000398136.2:n.451-355del
ENST00000524788.1:n.389del
ENST00000528807.1:n.239del
ENST00000533371.5:c.-41del	ENSP00000437066.1:n.-41del
ENST00000611494.4:c.689del	ENSP00000484546.1:p.Phe230SerfsTer28
NM_000391.3:c.689del	NP_000382.3:p.Phe230SerfsTer28
NM_000391.4:c.689del MANE Select	NP_000382.3:p.Phe230SerfsTer28