Canonical Allele Identifier: CA1950236104

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616261_6616262delinsAG , CM000673.2:g.6616261_6616262delinsAG	GRCh38
NC_000011.9:g.6637492_6637493delinsAG , CM000673.1:g.6637492_6637493delinsAG	GRCh37
NC_000011.8:g.6594068_6594069delinsAG	NCBI36
NG_008653.1:g.8200_8201delinsCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.961+53_961+54delinsCT	ENSP00000507321.1:n.961+53_961+54delinsCT...
ENST00000299427.12:c.1075+53_1075+54delinsCT MANE Select	ENSP00000299427.6:n.1075+53_1075+54delins...
ENST00000436873.7:c.313-188_313-187delinsCT
ENST00000524924.2:n.8_9delinsCT
ENST00000533371.6:c.346+53_346+54delinsCT	ENSP00000437066.1:n.346+53_346+54delinsCT...
ENST00000642892.1:c.346+53_346+54delinsCT	ENSP00000494165.1:n.346+53_346+54delinsCT...
ENST00000643342.1:c.165+53_165+54delinsCT
ENST00000643439.1:c.*815+53_*815+54delinsCT	ENSP00000495849.1:n.*815+53_*815+54delins...
ENST00000643479.1:n.1261+53_1261+54delinsCT
ENST00000643516.1:c.584+53_584+54delinsCT
ENST00000644218.1:c.887-188_887-187delinsCT	ENSP00000493574.1:n.887-188_887-187delins...
ENST00000644683.1:c.*528+53_*528+54delinsCT	ENSP00000494085.1:n.*528+53_*528+54delins...
ENST00000644810.1:c.796+53_796+54delinsCT	ENSP00000495895.1:n.796+53_796+54delinsCT...
ENST00000644831.1:n.1251+53_1251+54delinsCT
ENST00000644933.1:c.346+53_346+54delinsCT	ENSP00000496133.1:n.346+53_346+54delinsCT...
ENST00000645285.1:c.158-188_158-187delinsCT	ENSP00000495058.1:n.158-188_158-187delins...
ENST00000645331.1:n.1651_1652delinsCT
ENST00000645620.1:c.346+53_346+54delinsCT	ENSP00000493657.1:n.346+53_346+54delinsCT...
ENST00000646691.1:n.221_222delinsCT
ENST00000646777.1:n.1408+53_1408+54delinsCT
ENST00000647016.1:n.1555+53_1555+54delinsCT
ENST00000647152.1:c.346+53_346+54delinsCT	ENSP00000495893.1:n.346+53_346+54delinsCT...
ENST00000647209.1:c.*944+53_*944+54delinsCT	ENSP00000495558.1:n.*944+53_*944+54delins...
ENST00000647346.1:n.2095+53_2095+54delinsCT
ENST00000299427.10:c.1075+53_1075+54delinsCT	ENSP00000299427.6:n.1075+53_1075+54delins...
ENST00000533371.5:c.346+53_346+54delinsCT	ENSP00000437066.1:n.346+53_346+54delinsCT...
ENST00000611494.4:c.1075+53_1075+54delinsCT	ENSP00000484546.1:n.1075+53_1075+54delins...
NM_000391.3:c.1075+53_1075+54delinsCT	NP_000382.3:n.1075+53_1075+54delinsCT
NM_000391.4:c.1075+53_1075+54delinsCT MANE Select	NP_000382.3:n.1075+53_1075+54delinsCT