Canonical Allele Identifier: CA658822363

Gene: TPP1

Linked Data

• ClinVar Variation Id: 557022
• ClinVar RCV Id: RCV000673108
• dbSNP Id: rs1057516264
• gnomAD v4: 11-6614967-TC-T
• MyVariant Identifiers: chr11:g.6614968del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614973del , CM000673.2:g.6614973del	GRCh38
NC_000011.9:g.6636204del , CM000673.1:g.6636204del	GRCh37
NC_000011.8:g.6592780del	NCBI36
NG_008653.1:g.9494del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.1335del	ENSP00000507321.1:p.Ile446SerfsTer4
ENST00000299427.12:c.1449del MANE Select	ENSP00000299427.6:p.Ile484SerfsTer4
ENST00000524611.2:n.309del
ENST00000524924.2:n.569del
ENST00000533371.6:c.720del	ENSP00000437066.1:p.Ile241SerfsTer4
ENST00000642892.1:c.720del	ENSP00000494165.1:p.Ile241SerfsTer4
ENST00000643342.1:c.522del
ENST00000643439.1:c.*1189del	ENSP00000495849.1:n.*1189del
ENST00000643479.1:n.1635del
ENST00000643516.1:c.958del
ENST00000644218.1:c.1260del	ENSP00000493574.1:p.Ile421SerfsTer4
ENST00000644683.1:c.*902del	ENSP00000494085.1:n.*902del
ENST00000644810.1:c.1170del	ENSP00000495895.1:p.Ile391SerfsTer4
ENST00000644831.1:n.1625del
ENST00000644933.1:c.*315del	ENSP00000496133.1:n.*315del
ENST00000645285.1:c.*315del	ENSP00000495058.1:n.*315del
ENST00000645331.1:n.2654del
ENST00000645620.1:c.720del	ENSP00000493657.1:p.Ile241SerfsTer4
ENST00000646691.1:n.1336del
ENST00000646777.1:n.1782del
ENST00000647016.1:n.1929del
ENST00000647152.1:c.720del	ENSP00000495893.1:p.Ile241SerfsTer4
ENST00000647209.1:c.*1318del	ENSP00000495558.1:n.*1318del
ENST00000647346.1:n.2469del
ENST00000299427.10:c.1449del	ENSP00000299427.6:p.Ile484SerfsTer4
ENST00000524611.1:n.327del
ENST00000533371.5:c.720del	ENSP00000437066.1:p.Ile241SerfsTer4
ENST00000611494.4:c.1449del	ENSP00000484546.1:p.Ile484SerfsTer4
NM_000391.3:c.1449del	NP_000382.3:p.Ile484SerfsTer4
NM_000391.4:c.1449del MANE Select	NP_000382.3:p.Ile484SerfsTer4