Canonical Allele Identifier: CA1950236073

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616232_6616246delinsACCAGGCTCAGGGAT , CM000673.2:g.6616232_6616246delinsACCAGGCTCAGGGAT	GRCh38
NC_000011.9:g.6637463_6637477delinsACCAGGCTCAGGGAT , CM000673.1:g.6637463_6637477delinsACCAGGCTCAGGGAT	GRCh37
NC_000011.8:g.6594039_6594053delinsACCAGGCTCAGGGAT	NCBI36
NG_008653.1:g.8216_8230delinsATCCCTGAGCCTGGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.961+69_961+83delinsATCCCTGAGCCTGGT	ENSP00000507321.1:n.961+69_961+83delinsAT...
ENST00000299427.12:c.1075+69_1075+83delinsATCCCTGAGCCTGGT MANE Select	ENSP00000299427.6:n.1075+69_1075+83delins...
ENST00000436873.7:c.313-172_313-158delinsATCCCTGAGCCTGGT
ENST00000524924.2:n.24_38delinsATCCCTGAGCCTGGT
ENST00000533371.6:c.346+69_346+83delinsATCCCTGAGCCTGGT	ENSP00000437066.1:n.346+69_346+83delinsAT...
ENST00000642892.1:c.346+69_346+83delinsATCCCTGAGCCTGGT	ENSP00000494165.1:n.346+69_346+83delinsAT...
ENST00000643342.1:c.165+69_165+83delinsATCCCTGAGCCTGGT
ENST00000643439.1:c.*815+69_*815+83delinsATCCCTGAGCCTGGT	ENSP00000495849.1:n.*815+69_*815+83delins...
ENST00000643479.1:n.1261+69_1261+83delinsATCCCTGAGCCTGGT
ENST00000643516.1:c.584+69_584+83delinsATCCCTGAGCCTGGT
ENST00000644218.1:c.887-172_887-158delinsATCCCTGAGCCTGGT	ENSP00000493574.1:n.887-172_887-158delins...
ENST00000644683.1:c.*528+69_*528+83delinsATCCCTGAGCCTGGT	ENSP00000494085.1:n.*528+69_*528+83delins...
ENST00000644810.1:c.796+69_796+83delinsATCCCTGAGCCTGGT	ENSP00000495895.1:n.796+69_796+83delinsAT...
ENST00000644831.1:n.1251+69_1251+83delinsATCCCTGAGCCTGGT
ENST00000644933.1:c.346+69_346+83delinsATCCCTGAGCCTGGT	ENSP00000496133.1:n.346+69_346+83delinsAT...
ENST00000645285.1:c.158-172_158-158delinsATCCCTGAGCCTGGT	ENSP00000495058.1:n.158-172_158-158delins...
ENST00000645331.1:n.1667_1681delinsATCCCTGAGCCTGGT
ENST00000645620.1:c.346+69_346+83delinsATCCCTGAGCCTGGT	ENSP00000493657.1:n.346+69_346+83delinsAT...
ENST00000646691.1:n.237_251delinsATCCCTGAGCCTGGT
ENST00000646777.1:n.1408+69_1408+83delinsATCCCTGAGCCTGGT
ENST00000647016.1:n.1555+69_1555+83delinsATCCCTGAGCCTGGT
ENST00000647152.1:c.346+69_346+83delinsATCCCTGAGCCTGGT	ENSP00000495893.1:n.346+69_346+83delinsAT...
ENST00000647209.1:c.*944+69_*944+83delinsATCCCTGAGCCTGGT	ENSP00000495558.1:n.*944+69_*944+83delins...
ENST00000647346.1:n.2095+69_2095+83delinsATCCCTGAGCCTGGT
ENST00000299427.10:c.1075+69_1075+83delinsATCCCTGAGCCTGGT	ENSP00000299427.6:n.1075+69_1075+83delins...
ENST00000533371.5:c.346+69_346+83delinsATCCCTGAGCCTGGT	ENSP00000437066.1:n.346+69_346+83delinsAT...
ENST00000611494.4:c.1075+69_1075+83delinsATCCCTGAGCCTGGT	ENSP00000484546.1:n.1075+69_1075+83delins...
NM_000391.3:c.1075+69_1075+83delinsATCCCTGAGCCTGGT	NP_000382.3:n.1075+69_1075+83delinsATCCCT...
NM_000391.4:c.1075+69_1075+83delinsATCCCTGAGCCTGGT MANE Select	NP_000382.3:n.1075+69_1075+83delinsATCCCT...