Canonical Allele Identifier: CA2580615630

Gene: TPP1

Linked Data

• ClinVar Variation Id: 1725187
• ClinVar RCV Id: RCV002308246

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615510_6615511del , CM000673.2:g.6615510_6615511del	GRCh38
NC_000011.9:g.6636741_6636742del , CM000673.1:g.6636741_6636742del	GRCh37
NC_000011.8:g.6593317_6593318del	NCBI36
NG_008653.1:g.8953_8954del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1085_1086del	ENSP00000507321.1:p.Thr362LysfsTer2
ENST00000299427.12:c.1199_1200del MANE Select	ENSP00000299427.6:p.Thr400LysfsTer2
ENST00000436873.7:c.436_437del
ENST00000524924.2:n.319_320del
ENST00000533371.6:c.470_471del	ENSP00000437066.1:p.Thr157LysfsTer2
ENST00000642892.1:c.470_471del	ENSP00000494165.1:p.Thr157LysfsTer2
ENST00000643342.1:c.272_273del
ENST00000643439.1:c.*939_*940del	ENSP00000495849.1:n.*939_*940del
ENST00000643479.1:n.1385_1386del
ENST00000643516.1:c.708_709del
ENST00000644218.1:c.1010_1011del	ENSP00000493574.1:p.Thr337LysfsTer2
ENST00000644683.1:c.*652_*653del	ENSP00000494085.1:n.*652_*653del
ENST00000644810.1:c.920_921del	ENSP00000495895.1:p.Thr307LysfsTer2
ENST00000644831.1:n.1375_1376del
ENST00000644933.1:c.*65_*66del	ENSP00000496133.1:n.*65_*66del
ENST00000645285.1:c.*65_*66del	ENSP00000495058.1:n.*65_*66del
ENST00000645331.1:n.2404_2405del
ENST00000645620.1:c.470_471del	ENSP00000493657.1:p.Thr157LysfsTer2
ENST00000646691.1:n.974_975del
ENST00000646777.1:n.1532_1533del
ENST00000647016.1:n.1679_1680del
ENST00000647152.1:c.470_471del	ENSP00000495893.1:p.Thr157LysfsTer2
ENST00000647209.1:c.*1068_*1069del	ENSP00000495558.1:n.*1068_*1069del
ENST00000647346.1:n.2219_2220del
ENST00000299427.10:c.1199_1200del	ENSP00000299427.6:p.Thr400LysfsTer2
ENST00000524924.1:n.154_155del
ENST00000532191.1:n.252_253del
ENST00000533371.5:c.470_471del	ENSP00000437066.1:p.Thr157LysfsTer2
ENST00000611494.4:c.1199_1200del	ENSP00000484546.1:p.Thr400LysfsTer2
NM_000391.3:c.1199_1200del	NP_000382.3:p.Thr400LysfsTer2
NM_000391.4:c.1199_1200del MANE Select	NP_000382.3:p.Thr400LysfsTer2