Canonical Allele Identifier: CA2499221175

Gene: TPP1

Linked Data

• ClinVar Variation Id: 1074191
• ClinVar RCV Id: RCV001387413
• dbSNP Id: rs2134591716

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615270_6615273del , CM000673.2:g.6615270_6615273del	GRCh38
NC_000011.9:g.6636501_6636504del , CM000673.1:g.6636501_6636504del	GRCh37
NC_000011.8:g.6593077_6593080del	NCBI36
NG_008653.1:g.9189_9192del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.1209_1212del	ENSP00000507321.1:p.Tyr403Ter
ENST00000299427.12:c.1323_1326del MANE Select	ENSP00000299427.6:p.Tyr441Ter
ENST00000524611.2:n.183_186del
ENST00000524924.2:n.443_446del
ENST00000533371.6:c.594_597del	ENSP00000437066.1:p.Tyr198Ter
ENST00000642892.1:c.594_597del	ENSP00000494165.1:p.Tyr198Ter
ENST00000643342.1:c.396_399del
ENST00000643439.1:c.*1063_*1066del	ENSP00000495849.1:n.*1063_*1066del
ENST00000643479.1:n.1509_1512del
ENST00000643516.1:c.832_835del
ENST00000644218.1:c.1134_1137del	ENSP00000493574.1:p.Tyr378Ter
ENST00000644683.1:c.*776_*779del	ENSP00000494085.1:n.*776_*779del
ENST00000644810.1:c.1044_1047del	ENSP00000495895.1:p.Tyr348Ter
ENST00000644831.1:n.1499_1502del
ENST00000644933.1:c.*189_*192del	ENSP00000496133.1:n.*189_*192del
ENST00000645285.1:c.*189_*192del	ENSP00000495058.1:n.*189_*192del
ENST00000645331.1:n.2528_2531del
ENST00000645620.1:c.594_597del	ENSP00000493657.1:p.Tyr198Ter
ENST00000646691.1:n.1210_1213del
ENST00000646777.1:n.1656_1659del
ENST00000647016.1:n.1803_1806del
ENST00000647152.1:c.594_597del	ENSP00000495893.1:p.Tyr198Ter
ENST00000647209.1:c.*1192_*1195del	ENSP00000495558.1:n.*1192_*1195del
ENST00000647346.1:n.2343_2346del
ENST00000299427.10:c.1323_1326del	ENSP00000299427.6:p.Tyr441Ter
ENST00000524611.1:n.201_204del
ENST00000524924.1:n.278_281del
ENST00000532191.1:n.376_379del
ENST00000533371.5:c.594_597del	ENSP00000437066.1:p.Tyr198Ter
ENST00000611494.4:c.1323_1326del	ENSP00000484546.1:p.Tyr441Ter
NM_000391.3:c.1323_1326del	NP_000382.3:p.Tyr441Ter
NM_000391.4:c.1323_1326del MANE Select	NP_000382.3:p.Tyr441Ter