Canonical Allele Identifier: CA679347976

Gene: TPP1

Linked Data

• dbSNP Id: rs1183498178
• MyVariant Identifiers: chr11:g.6636403del (hg19) ; chr11:g.6615172del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615172del , CM000673.2:g.6615172del	GRCh38
NC_000011.9:g.6636403del , CM000673.1:g.6636403del	GRCh37
NC_000011.8:g.6592979del	NCBI36
NG_008653.1:g.9290del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1310del	ENSP00000507321.1:p.Ser437TrpfsTer13
ENST00000299427.12:c.1424del MANE Select	ENSP00000299427.6:p.Ser475TrpfsTer13
ENST00000524611.2:n.284del
ENST00000524924.2:n.544del
ENST00000533371.6:c.695del	ENSP00000437066.1:p.Ser232TrpfsTer13
ENST00000642892.1:c.695del	ENSP00000494165.1:p.Ser232TrpfsTer13
ENST00000643342.1:c.497del
ENST00000643439.1:c.*1164del	ENSP00000495849.1:n.*1164del
ENST00000643479.1:n.1610del
ENST00000643516.1:c.933del
ENST00000644218.1:c.1235del	ENSP00000493574.1:p.Ser412TrpfsTer13
ENST00000644683.1:c.*877del	ENSP00000494085.1:n.*877del
ENST00000644810.1:c.1145del	ENSP00000495895.1:p.Ser382TrpfsTer13
ENST00000644831.1:n.1600del
ENST00000644933.1:c.*290del	ENSP00000496133.1:n.*290del
ENST00000645285.1:c.*290del	ENSP00000495058.1:n.*290del
ENST00000645331.1:n.2629del
ENST00000645620.1:c.695del	ENSP00000493657.1:p.Ser232TrpfsTer13
ENST00000646691.1:n.1311del
ENST00000646777.1:n.1757del
ENST00000647016.1:n.1904del
ENST00000647152.1:c.695del	ENSP00000495893.1:p.Ser232TrpfsTer13
ENST00000647209.1:c.*1293del	ENSP00000495558.1:n.*1293del
ENST00000647346.1:n.2444del
ENST00000299427.10:c.1424del	ENSP00000299427.6:p.Ser475TrpfsTer13
ENST00000524611.1:n.302del
ENST00000533371.5:c.695del	ENSP00000437066.1:p.Ser232TrpfsTer13
ENST00000611494.4:c.1424del	ENSP00000484546.1:p.Ser475TrpfsTer13
NM_000391.3:c.1424del	NP_000382.3:p.Ser475TrpfsTer13
NM_000391.4:c.1424del MANE Select	NP_000382.3:p.Ser475TrpfsTer13