Canonical Allele Identifier: CA1950233989

Gene: TPP1

Linked Data

• dbSNP Id: rs1855560386

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615218del , CM000673.2:g.6615218del	GRCh38
NC_000011.9:g.6636449del , CM000673.1:g.6636449del	GRCh37
NC_000011.8:g.6593025del	NCBI36
NG_008653.1:g.9244del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1264del	ENSP00000507321.1:p.Trp422GlyfsTer28
ENST00000299427.12:c.1378del MANE Select	ENSP00000299427.6:p.Trp460GlyfsTer28
ENST00000524611.2:n.238del
ENST00000524924.2:n.498del
ENST00000533371.6:c.649del	ENSP00000437066.1:p.Trp217GlyfsTer28
ENST00000642892.1:c.649del	ENSP00000494165.1:p.Trp217GlyfsTer28
ENST00000643342.1:c.451del
ENST00000643439.1:c.*1118del	ENSP00000495849.1:n.*1118del
ENST00000643479.1:n.1564del
ENST00000643516.1:c.887del
ENST00000644218.1:c.1189del	ENSP00000493574.1:p.Trp397GlyfsTer28
ENST00000644683.1:c.*831del	ENSP00000494085.1:n.*831del
ENST00000644810.1:c.1099del	ENSP00000495895.1:p.Trp367GlyfsTer28
ENST00000644831.1:n.1554del
ENST00000644933.1:c.*244del	ENSP00000496133.1:n.*244del
ENST00000645285.1:c.*244del	ENSP00000495058.1:n.*244del
ENST00000645331.1:n.2583del
ENST00000645620.1:c.649del	ENSP00000493657.1:p.Trp217GlyfsTer28
ENST00000646691.1:n.1265del
ENST00000646777.1:n.1711del
ENST00000647016.1:n.1858del
ENST00000647152.1:c.649del	ENSP00000495893.1:p.Trp217GlyfsTer28
ENST00000647209.1:c.*1247del	ENSP00000495558.1:n.*1247del
ENST00000647346.1:n.2398del
ENST00000299427.10:c.1378del	ENSP00000299427.6:p.Trp460GlyfsTer28
ENST00000524611.1:n.256del
ENST00000532191.1:n.431del
ENST00000533371.5:c.649del	ENSP00000437066.1:p.Trp217GlyfsTer28
ENST00000611494.4:c.1378del	ENSP00000484546.1:p.Trp460GlyfsTer28
NM_000391.3:c.1378del	NP_000382.3:p.Trp460GlyfsTer28
NM_000391.4:c.1378del MANE Select	NP_000382.3:p.Trp460GlyfsTer28