Canonical Allele Identifier: CA2574741193
Gene: TPP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6615409_6615410del , CM000673.2:g.6615409_6615410del GRCh38
NC_000011.9:g.6636640_6636641del , CM000673.1:g.6636640_6636641del GRCh37
NC_000011.8:g.6593216_6593217del NCBI36
NG_008653.1:g.9052_9053del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.1152+32_1152+33del ENSP00000507321.1:n.1152+32_1152+33del
ENST00000299427.12:c.1266+32_1266+33del MANE Select ENSP00000299427.6:n.1266+32_1266+33del
ENST00000436873.7:c.503+32_503+33del
ENST00000524611.2:n.46_47del
ENST00000524924.2:n.386+32_386+33del
ENST00000533371.6:c.537+32_537+33del ENSP00000437066.1:n.537+32_537+33del
ENST00000642892.1:c.537+32_537+33del ENSP00000494165.1:n.537+32_537+33del
ENST00000643342.1:c.339+32_339+33del
ENST00000643439.1:c.*1006+32_*1006+33del ENSP00000495849.1:n.*1006+32_*1006+33del
ENST00000643479.1:n.1452+32_1452+33del
ENST00000643516.1:c.775+32_775+33del
ENST00000644218.1:c.1077+32_1077+33del ENSP00000493574.1:n.1077+32_1077+33del
ENST00000644683.1:c.*719+32_*719+33del ENSP00000494085.1:n.*719+32_*719+33del
ENST00000644810.1:c.987+32_987+33del ENSP00000495895.1:n.987+32_987+33del
ENST00000644831.1:n.1442+32_1442+33del
ENST00000644933.1:c.*132+32_*132+33del ENSP00000496133.1:n.*132+32_*132+33del
ENST00000645285.1:c.*132+32_*132+33del ENSP00000495058.1:n.*132+32_*132+33del
ENST00000645331.1:n.2471+32_2471+33del
ENST00000645620.1:c.537+32_537+33del ENSP00000493657.1:n.537+32_537+33del
ENST00000646691.1:n.1073_1074del
ENST00000646777.1:n.1599+32_1599+33del
ENST00000647016.1:n.1746+32_1746+33del
ENST00000647152.1:c.537+32_537+33del ENSP00000495893.1:n.537+32_537+33del
ENST00000647209.1:c.*1135+32_*1135+33del ENSP00000495558.1:n.*1135+32_*1135+33del
ENST00000647346.1:n.2286+32_2286+33del
ENST00000299427.10:c.1266+32_1266+33del ENSP00000299427.6:n.1266+32_1266+33del
ENST00000524611.1:n.64_65del
ENST00000524924.1:n.221+32_221+33del
ENST00000532191.1:n.319+32_319+33del
ENST00000533371.5:c.537+32_537+33del ENSP00000437066.1:n.537+32_537+33del
ENST00000611494.4:c.1266+32_1266+33del ENSP00000484546.1:n.1266+32_1266+33del
NM_000391.3:c.1266+32_1266+33del NP_000382.3:n.1266+32_1266+33del
NM_000391.4:c.1266+32_1266+33del MANE Select NP_000382.3:n.1266+32_1266+33del