Canonical Allele Identifier: CA2522318724

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615400_6615412del , CM000673.2:g.6615400_6615412del	GRCh38
NC_000011.9:g.6636631_6636643del , CM000673.1:g.6636631_6636643del	GRCh37
NC_000011.8:g.6593207_6593219del	NCBI36
NG_008653.1:g.9050_9062del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1152+30_1152+42del	ENSP00000507321.1:n.1152+30_1152+42del
ENST00000299427.12:c.1266+30_1266+42del MANE Select	ENSP00000299427.6:n.1266+30_1266+42del
ENST00000436873.7:c.503+30_503+42del
ENST00000524611.2:n.44_56del
ENST00000524924.2:n.386+30_386+42del
ENST00000533371.6:c.537+30_537+42del	ENSP00000437066.1:n.537+30_537+42del
ENST00000642892.1:c.537+30_537+42del	ENSP00000494165.1:n.537+30_537+42del
ENST00000643342.1:c.339+30_339+42del
ENST00000643439.1:c.*1006+30_*1006+42del	ENSP00000495849.1:n.*1006+30_*1006+42del
ENST00000643479.1:n.1452+30_1452+42del
ENST00000643516.1:c.775+30_775+42del
ENST00000644218.1:c.1077+30_1077+42del	ENSP00000493574.1:n.1077+30_1077+42del
ENST00000644683.1:c.*719+30_*719+42del	ENSP00000494085.1:n.*719+30_*719+42del
ENST00000644810.1:c.987+30_987+42del	ENSP00000495895.1:n.987+30_987+42del
ENST00000644831.1:n.1442+30_1442+42del
ENST00000644933.1:c.*132+30_*132+42del	ENSP00000496133.1:n.*132+30_*132+42del
ENST00000645285.1:c.*132+30_*132+42del	ENSP00000495058.1:n.*132+30_*132+42del
ENST00000645331.1:n.2471+30_2471+42del
ENST00000645620.1:c.537+30_537+42del	ENSP00000493657.1:n.537+30_537+42del
ENST00000646691.1:n.1071_1083del
ENST00000646777.1:n.1599+30_1599+42del
ENST00000647016.1:n.1746+30_1746+42del
ENST00000647152.1:c.537+30_537+42del	ENSP00000495893.1:n.537+30_537+42del
ENST00000647209.1:c.*1135+30_*1135+42del	ENSP00000495558.1:n.*1135+30_*1135+42del
ENST00000647346.1:n.2286+30_2286+42del
ENST00000299427.10:c.1266+30_1266+42del	ENSP00000299427.6:n.1266+30_1266+42del
ENST00000524611.1:n.62_74del
ENST00000524924.1:n.221+30_221+42del
ENST00000532191.1:n.319+30_319+42del
ENST00000533371.5:c.537+30_537+42del	ENSP00000437066.1:n.537+30_537+42del
ENST00000611494.4:c.1266+30_1266+42del	ENSP00000484546.1:n.1266+30_1266+42del
NM_000391.3:c.1266+30_1266+42del	NP_000382.3:n.1266+30_1266+42del
NM_000391.4:c.1266+30_1266+42del MANE Select	NP_000382.3:n.1266+30_1266+42del