Canonical Allele Identifier: CA2582341859

Gene: TPP1

Linked Data

• ClinVar Variation Id: 2627615
• ClinVar RCV Id: RCV003388905

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615441_6615442delinsTGTTTGTTTGTA , CM000673.2:g.6615441_6615442delinsTGTTTGTTTGTA	GRCh38
NC_000011.9:g.6636672_6636673delinsTGTTTGTTTGTA , CM000673.1:g.6636672_6636673delinsTGTTTGTTTGTA	GRCh37
NC_000011.8:g.6593248_6593249delinsTGTTTGTTTGTA	NCBI36
NG_008653.1:g.9020_9021delinsTACAAACAAACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1152_1152+1delinsTACAAACAAACA
ENST00000299427.12:c.1266_1266+1delinsTACAAACAAACA
ENST00000436873.7:c.503_503+1delinsTACAAACAAACA
ENST00000524611.2:n.14_15delinsTACAAACAAACA
ENST00000524924.2:n.386_386+1delinsTACAAACAAACA
ENST00000533371.6:c.537_537+1delinsTACAAACAAACA
ENST00000642892.1:c.537_537+1delinsTACAAACAAACA
ENST00000643342.1:c.339_339+1delinsTACAAACAAACA
ENST00000643439.1:c.*1006_*1006+1delinsTACAAACAAACA
ENST00000643479.1:n.1452_1452+1delinsTACAAACAAACA
ENST00000643516.1:c.775_775+1delinsTACAAACAAACA
ENST00000644218.1:c.1077_1077+1delinsTACAAACAAACA
ENST00000644683.1:c.*719_*719+1delinsTACAAACAAACA
ENST00000644810.1:c.987_987+1delinsTACAAACAAACA
ENST00000644831.1:n.1442_1442+1delinsTACAAACAAACA
ENST00000644933.1:c.*132_*132+1delinsTACAAACAAACA
ENST00000645285.1:c.*132_*132+1delinsTACAAACAAACA
ENST00000645331.1:n.2471_2471+1delinsTACAAACAAACA
ENST00000645620.1:c.537_537+1delinsTACAAACAAACA
ENST00000646691.1:n.1041_1042delinsTACAAACAAACA
ENST00000646777.1:n.1599_1599+1delinsTACAAACAAACA
ENST00000647016.1:n.1746_1746+1delinsTACAAACAAACA
ENST00000647152.1:c.537_537+1delinsTACAAACAAACA
ENST00000647209.1:c.*1135_*1135+1delinsTACAAACAAACA
ENST00000647346.1:n.2286_2286+1delinsTACAAACAAACA
ENST00000299427.10:c.1266_1266+1delinsTACAAACAAACA
ENST00000524611.1:n.32_33delinsTACAAACAAACA
ENST00000524924.1:n.221_221+1delinsTACAAACAAACA
ENST00000532191.1:n.319_319+1delinsTACAAACAAACA
ENST00000533371.5:c.537_537+1delinsTACAAACAAACA
ENST00000611494.4:c.1266_1266+1delinsTACAAACAAACA
NM_000391.3:c.1266_1266+1delinsTACAAACAAACA
NM_000391.4:c.1266_1266+1delinsTACAAACAAACA