Canonical Allele Identifier: CA2591019552

Gene: TPP1

Linked Data

• gnomAD v3: 11-6615517-GA-G
• gnomAD v4: 11-6615517-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615520del , CM000673.2:g.6615520del	GRCh38
NC_000011.9:g.6636751del , CM000673.1:g.6636751del	GRCh37
NC_000011.8:g.6593327del	NCBI36
NG_008653.1:g.8944del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1076del	ENSP00000507321.1:p.Phe359SerfsTer30
ENST00000299427.12:c.1190del MANE Select	ENSP00000299427.6:p.Phe397SerfsTer30
ENST00000436873.7:c.427del
ENST00000524924.2:n.310del
ENST00000533371.6:c.461del	ENSP00000437066.1:p.Phe154SerfsTer30
ENST00000642892.1:c.461del	ENSP00000494165.1:p.Phe154SerfsTer30
ENST00000643342.1:c.263del
ENST00000643439.1:c.*930del	ENSP00000495849.1:n.*930del
ENST00000643479.1:n.1376del
ENST00000643516.1:c.699del
ENST00000644218.1:c.1001del	ENSP00000493574.1:p.Phe334SerfsTer30
ENST00000644683.1:c.*643del	ENSP00000494085.1:n.*643del
ENST00000644810.1:c.911del	ENSP00000495895.1:p.Phe304SerfsTer30
ENST00000644831.1:n.1366del
ENST00000644933.1:c.*56del	ENSP00000496133.1:n.*56del
ENST00000645285.1:c.*56del	ENSP00000495058.1:n.*56del
ENST00000645331.1:n.2395del
ENST00000645620.1:c.461del	ENSP00000493657.1:p.Phe154SerfsTer30
ENST00000646691.1:n.965del
ENST00000646777.1:n.1523del
ENST00000647016.1:n.1670del
ENST00000647152.1:c.461del	ENSP00000495893.1:p.Phe154SerfsTer30
ENST00000647209.1:c.*1059del	ENSP00000495558.1:n.*1059del
ENST00000647346.1:n.2210del
ENST00000299427.10:c.1190del	ENSP00000299427.6:p.Phe397SerfsTer30
ENST00000524924.1:n.145del
ENST00000532191.1:n.243del
ENST00000533371.5:c.461del	ENSP00000437066.1:p.Phe154SerfsTer30
ENST00000611494.4:c.1190del	ENSP00000484546.1:p.Phe397SerfsTer30
NM_000391.3:c.1190del	NP_000382.3:p.Phe397SerfsTer30
NM_000391.4:c.1190del MANE Select	NP_000382.3:p.Phe397SerfsTer30