Canonical Allele Identifier: CA2580084004

Gene: TPP1

Linked Data

• ClinVar Variation Id: 1724134
• ClinVar RCV Id: RCV002306689

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615494_6615495delinsA , CM000673.2:g.6615494_6615495delinsA	GRCh38
NC_000011.9:g.6636725_6636726delinsA , CM000673.1:g.6636725_6636726delinsA	GRCh37
NC_000011.8:g.6593301_6593302delinsA	NCBI36
NG_008653.1:g.8967_8968delinsT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1099_1100delinsT	ENSP00000507321.1:p.Asp367SerfsTer22
ENST00000299427.12:c.1213_1214delinsT MANE Select	ENSP00000299427.6:p.Asp405SerfsTer22
ENST00000436873.7:c.450_451delinsT
ENST00000524924.2:n.333_334delinsT
ENST00000533371.6:c.484_485delinsT	ENSP00000437066.1:p.Asp162SerfsTer22
ENST00000642892.1:c.484_485delinsT	ENSP00000494165.1:p.Asp162SerfsTer22
ENST00000643342.1:c.286_287delinsT
ENST00000643439.1:c.*953_*954delinsT	ENSP00000495849.1:n.*953_*954delinsT
ENST00000643479.1:n.1399_1400delinsT
ENST00000643516.1:c.722_723delinsT
ENST00000644218.1:c.1024_1025delinsT	ENSP00000493574.1:p.Asp342SerfsTer22
ENST00000644683.1:c.*666_*667delinsT	ENSP00000494085.1:n.*666_*667delinsT
ENST00000644810.1:c.934_935delinsT	ENSP00000495895.1:p.Asp312SerfsTer22
ENST00000644831.1:n.1389_1390delinsT
ENST00000644933.1:c.*79_*80delinsT	ENSP00000496133.1:n.*79_*80delinsT
ENST00000645285.1:c.*79_*80delinsT	ENSP00000495058.1:n.*79_*80delinsT
ENST00000645331.1:n.2418_2419delinsT
ENST00000645620.1:c.484_485delinsT	ENSP00000493657.1:p.Asp162SerfsTer22
ENST00000646691.1:n.988_989delinsT
ENST00000646777.1:n.1546_1547delinsT
ENST00000647016.1:n.1693_1694delinsT
ENST00000647152.1:c.484_485delinsT	ENSP00000495893.1:p.Asp162SerfsTer22
ENST00000647209.1:c.*1082_*1083delinsT	ENSP00000495558.1:n.*1082_*1083delinsT
ENST00000647346.1:n.2233_2234delinsT
ENST00000299427.10:c.1213_1214delinsT	ENSP00000299427.6:p.Asp405SerfsTer22
ENST00000524924.1:n.168_169delinsT
ENST00000532191.1:n.266_267delinsT
ENST00000533371.5:c.484_485delinsT	ENSP00000437066.1:p.Asp162SerfsTer22
ENST00000611494.4:c.1213_1214delinsT	ENSP00000484546.1:p.Asp405SerfsTer22
NM_000391.3:c.1213_1214delinsT	NP_000382.3:p.Asp405SerfsTer22
NM_000391.4:c.1213_1214delinsT MANE Select	NP_000382.3:p.Asp405SerfsTer22