Canonical Allele Identifier: CA5858672

Gene: TPP1

Linked Data

• dbSNP Id: rs767317024
• ExAC: 11:6636484 GC / G
• gnomAD v2: 11-6636484-GC-G
• gnomAD v4: 11-6615253-GC-G
• MyVariant Identifiers: chr11:g.6636485del (hg19) ; chr11:g.6615254del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615254del , CM000673.2:g.6615254del	GRCh38
NC_000011.9:g.6636485del , CM000673.1:g.6636485del	GRCh37
NC_000011.8:g.6593061del	NCBI36
NG_008653.1:g.9208del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1228del	ENSP00000507321.1:p.Ala410ProfsTer?
ENST00000299427.12:c.1342del MANE Select	ENSP00000299427.6:p.Ala448ProfsTer?
ENST00000524611.2:n.202del
ENST00000524924.2:n.462del
ENST00000533371.6:c.613del	ENSP00000437066.1:p.Ala205ProfsTer?
ENST00000642892.1:c.613del	ENSP00000494165.1:p.Ala205ProfsTer?
ENST00000643342.1:c.415del
ENST00000643439.1:c.*1082del	ENSP00000495849.1:n.*1082del
ENST00000643479.1:n.1528del
ENST00000643516.1:c.851del
ENST00000644218.1:c.1153del	ENSP00000493574.1:p.Ala385ProfsTer?
ENST00000644683.1:c.*795del	ENSP00000494085.1:n.*795del
ENST00000644810.1:c.1063del	ENSP00000495895.1:p.Ala355ProfsTer?
ENST00000644831.1:n.1518del
ENST00000644933.1:c.*208del	ENSP00000496133.1:n.*208del
ENST00000645285.1:c.*208del	ENSP00000495058.1:n.*208del
ENST00000645331.1:n.2547del
ENST00000645620.1:c.613del	ENSP00000493657.1:p.Ala205ProfsTer?
ENST00000646691.1:n.1229del
ENST00000646777.1:n.1675del
ENST00000647016.1:n.1822del
ENST00000647152.1:c.613del	ENSP00000495893.1:p.Ala205ProfsTer?
ENST00000647209.1:c.*1211del	ENSP00000495558.1:n.*1211del
ENST00000647346.1:n.2362del
ENST00000299427.10:c.1342del	ENSP00000299427.6:p.Ala448ProfsTer?
ENST00000524611.1:n.220del
ENST00000532191.1:n.395del
ENST00000533371.5:c.613del	ENSP00000437066.1:p.Ala205ProfsTer?
ENST00000611494.4:c.1342del	ENSP00000484546.1:p.Ala448ProfsTer?
NM_000391.3:c.1342del	NP_000382.3:p.Ala448ProfsTer?
NM_000391.4:c.1342del MANE Select	NP_000382.3:p.Ala448ProfsTer?