Canonical Allele Identifier: CA2612256980

Gene: TPP1

Linked Data

• dbSNP Id: rs2134591593
• gnomAD v4: 11-6615198-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615199del , CM000673.2:g.6615199del	GRCh38
NC_000011.9:g.6636430del , CM000673.1:g.6636430del	GRCh37
NC_000011.8:g.6593006del	NCBI36
NG_008653.1:g.9263del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1283del	ENSP00000507321.1:p.Val428GlyfsTer22
ENST00000299427.12:c.1397del MANE Select	ENSP00000299427.6:p.Val466GlyfsTer22
ENST00000524611.2:n.257del
ENST00000524924.2:n.517del
ENST00000533371.6:c.668del	ENSP00000437066.1:p.Val223GlyfsTer22
ENST00000642892.1:c.668del	ENSP00000494165.1:p.Val223GlyfsTer22
ENST00000643342.1:c.470del
ENST00000643439.1:c.*1137del	ENSP00000495849.1:n.*1137del
ENST00000643479.1:n.1583del
ENST00000643516.1:c.906del
ENST00000644218.1:c.1208del	ENSP00000493574.1:p.Val403GlyfsTer22
ENST00000644683.1:c.*850del	ENSP00000494085.1:n.*850del
ENST00000644810.1:c.1118del	ENSP00000495895.1:p.Val373GlyfsTer22
ENST00000644831.1:n.1573del
ENST00000644933.1:c.*263del	ENSP00000496133.1:n.*263del
ENST00000645285.1:c.*263del	ENSP00000495058.1:n.*263del
ENST00000645331.1:n.2602del
ENST00000645620.1:c.668del	ENSP00000493657.1:p.Val223GlyfsTer22
ENST00000646691.1:n.1284del
ENST00000646777.1:n.1730del
ENST00000647016.1:n.1877del
ENST00000647152.1:c.668del	ENSP00000495893.1:p.Val223GlyfsTer22
ENST00000647209.1:c.*1266del	ENSP00000495558.1:n.*1266del
ENST00000647346.1:n.2417del
ENST00000299427.10:c.1397del	ENSP00000299427.6:p.Val466GlyfsTer22
ENST00000524611.1:n.275del
ENST00000533371.5:c.668del	ENSP00000437066.1:p.Val223GlyfsTer22
ENST00000611494.4:c.1397del	ENSP00000484546.1:p.Val466GlyfsTer22
NM_000391.3:c.1397del	NP_000382.3:p.Val466GlyfsTer22
NM_000391.4:c.1397del MANE Select	NP_000382.3:p.Val466GlyfsTer22