Canonical Allele Identifier: CA2580084002

Gene: TPP1

Linked Data

• ClinVar Variation Id: 1724563
• ClinVar RCV Id: RCV002309831

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615458_6615460delinsA , CM000673.2:g.6615458_6615460delinsA	GRCh38
NC_000011.9:g.6636689_6636691delinsA , CM000673.1:g.6636689_6636691delinsA	GRCh37
NC_000011.8:g.6593265_6593267delinsA	NCBI36
NG_008653.1:g.9002_9004delinsT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1134_1136delinsT	ENSP00000507321.1:p.Pro379ThrfsTer16
ENST00000299427.12:c.1248_1250delinsT MANE Select	ENSP00000299427.6:p.Pro417ThrfsTer16
ENST00000436873.7:c.485_487delinsT
ENST00000524924.2:n.368_370delinsT
ENST00000533371.6:c.519_521delinsT	ENSP00000437066.1:p.Pro174ThrfsTer16
ENST00000642892.1:c.519_521delinsT	ENSP00000494165.1:p.Pro174ThrfsTer16
ENST00000643342.1:c.321_323delinsT
ENST00000643439.1:c.*988_*990delinsT	ENSP00000495849.1:n.*988_*990delinsT
ENST00000643479.1:n.1434_1436delinsT
ENST00000643516.1:c.757_759delinsT
ENST00000644218.1:c.1059_1061delinsT	ENSP00000493574.1:p.Pro354ThrfsTer16
ENST00000644683.1:c.*701_*703delinsT	ENSP00000494085.1:n.*701_*703delinsT
ENST00000644810.1:c.969_971delinsT	ENSP00000495895.1:p.Pro324ThrfsTer16
ENST00000644831.1:n.1424_1426delinsT
ENST00000644933.1:c.*114_*116delinsT	ENSP00000496133.1:n.*114_*116delinsT
ENST00000645285.1:c.*114_*116delinsT	ENSP00000495058.1:n.*114_*116delinsT
ENST00000645331.1:n.2453_2455delinsT
ENST00000645620.1:c.519_521delinsT	ENSP00000493657.1:p.Pro174ThrfsTer16
ENST00000646691.1:n.1023_1025delinsT
ENST00000646777.1:n.1581_1583delinsT
ENST00000647016.1:n.1728_1730delinsT
ENST00000647152.1:c.519_521delinsT	ENSP00000495893.1:p.Pro174ThrfsTer16
ENST00000647209.1:c.*1117_*1119delinsT	ENSP00000495558.1:n.*1117_*1119delinsT
ENST00000647346.1:n.2268_2270delinsT
ENST00000299427.10:c.1248_1250delinsT	ENSP00000299427.6:p.Pro417ThrfsTer16
ENST00000524611.1:n.14_16delinsT
ENST00000524924.1:n.203_205delinsT
ENST00000532191.1:n.301_303delinsT
ENST00000533371.5:c.519_521delinsT	ENSP00000437066.1:p.Pro174ThrfsTer16
ENST00000611494.4:c.1248_1250delinsT	ENSP00000484546.1:p.Pro417ThrfsTer16
NM_000391.3:c.1248_1250delinsT	NP_000382.3:p.Pro417ThrfsTer16
NM_000391.4:c.1248_1250delinsT MANE Select	NP_000382.3:p.Pro417ThrfsTer16