Canonical Allele Identifier: CA10603170
Gene: TPP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 280248
dbSNP Id: rs886041487

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6616451_6616452del , CM000673.2:g.6616451_6616452del GRCh38
NC_000011.9:g.6637682_6637683del , CM000673.1:g.6637682_6637683del GRCh37
NC_000011.8:g.6594258_6594259del NCBI36
NG_008653.1:g.8010_8011del

Transcript Alleles

HGVS Amino-acid change
ENST00000682424.1:c.824_825del ENSP00000507321.1:p.Asn275ArgfsTer15
ENST00000299427.12:c.938_939del MANE Select ENSP00000299427.6:p.Asn313ArgfsTer15
ENST00000436873.7:c.313-378_313-377del
ENST00000530040.2:n.531_532del
ENST00000533371.6:c.209_210del ENSP00000437066.1:p.Asn70ArgfsTer15
ENST00000642892.1:c.209_210del ENSP00000494165.1:p.Asn70ArgfsTer15
ENST00000643342.1:c.28_29del
ENST00000643439.1:c.*678_*679del ENSP00000495849.1:n.*678_*679del
ENST00000643479.1:n.1124_1125del
ENST00000643516.1:c.447_448del
ENST00000644218.1:c.886+209_886+210del ENSP00000493574.1:n.886+209_886+210del
ENST00000644683.1:c.*391_*392del ENSP00000494085.1:n.*391_*392del
ENST00000644810.1:c.659_660del ENSP00000495895.1:p.Asn220ArgfsTer15
ENST00000644831.1:n.1114_1115del
ENST00000644933.1:c.209_210del ENSP00000496133.1:p.Asn70ArgfsTer15
ENST00000645285.1:c.157+209_157+210del ENSP00000495058.1:n.157+209_157+210del
ENST00000645331.1:n.1461_1462del
ENST00000645620.1:c.209_210del ENSP00000493657.1:p.Asn70ArgfsTer15
ENST00000646691.1:n.31_32del
ENST00000646777.1:n.1271_1272del
ENST00000647016.1:n.1418_1419del
ENST00000647152.1:c.209_210del ENSP00000495893.1:p.Asn70ArgfsTer15
ENST00000647209.1:c.*807_*808del ENSP00000495558.1:n.*807_*808del
ENST00000647346.1:n.1958_1959del
ENST00000299427.10:c.938_939del ENSP00000299427.6:p.Asn313ArgfsTer15
ENST00000436873.6:c.502_503del ENSP00000398136.2:p.Met168GlufsTer?
ENST00000533371.5:c.209_210del ENSP00000437066.1:p.Asn70ArgfsTer15
ENST00000611494.4:c.938_939del ENSP00000484546.1:p.Asn313ArgfsTer15
NM_000391.3:c.938_939del NP_000382.3:p.Asn313ArgfsTer15
NM_000391.4:c.938_939del MANE Select NP_000382.3:p.Asn313ArgfsTer15