Canonical Allele Identifier: CA2612257993

Gene: TPP1

Linked Data

• gnomAD v4: 11-6616229-GAGACC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616232_6616236del , CM000673.2:g.6616232_6616236del	GRCh38
NC_000011.9:g.6637463_6637467del , CM000673.1:g.6637463_6637467del	GRCh37
NC_000011.8:g.6594039_6594043del	NCBI36
NG_008653.1:g.8228_8232del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.961+81_961+85del	ENSP00000507321.1:n.961+81_961+85del
ENST00000299427.12:c.1075+81_1075+85del MANE Select	ENSP00000299427.6:n.1075+81_1075+85del
ENST00000436873.7:c.313-160_313-156del
ENST00000524924.2:n.36_40del
ENST00000533371.6:c.346+81_346+85del	ENSP00000437066.1:n.346+81_346+85del
ENST00000642892.1:c.346+81_346+85del	ENSP00000494165.1:n.346+81_346+85del
ENST00000643342.1:c.165+81_165+85del
ENST00000643439.1:c.*815+81_*815+85del	ENSP00000495849.1:n.*815+81_*815+85del
ENST00000643479.1:n.1261+81_1261+85del
ENST00000643516.1:c.584+81_584+85del
ENST00000644218.1:c.887-160_887-156del	ENSP00000493574.1:n.887-160_887-156del
ENST00000644683.1:c.*528+81_*528+85del	ENSP00000494085.1:n.*528+81_*528+85del
ENST00000644810.1:c.796+81_796+85del	ENSP00000495895.1:n.796+81_796+85del
ENST00000644831.1:n.1251+81_1251+85del
ENST00000644933.1:c.346+81_346+85del	ENSP00000496133.1:n.346+81_346+85del
ENST00000645285.1:c.158-160_158-156del	ENSP00000495058.1:n.158-160_158-156del
ENST00000645331.1:n.1679_1683del
ENST00000645620.1:c.346+81_346+85del	ENSP00000493657.1:n.346+81_346+85del
ENST00000646691.1:n.249_253del
ENST00000646777.1:n.1408+81_1408+85del
ENST00000647016.1:n.1555+81_1555+85del
ENST00000647152.1:c.346+81_346+85del	ENSP00000495893.1:n.346+81_346+85del
ENST00000647209.1:c.*944+81_*944+85del	ENSP00000495558.1:n.*944+81_*944+85del
ENST00000647346.1:n.2095+81_2095+85del
ENST00000299427.10:c.1075+81_1075+85del	ENSP00000299427.6:n.1075+81_1075+85del
ENST00000533371.5:c.346+81_346+85del	ENSP00000437066.1:n.346+81_346+85del
ENST00000611494.4:c.1075+81_1075+85del	ENSP00000484546.1:n.1075+81_1075+85del
NM_000391.3:c.1075+81_1075+85del	NP_000382.3:n.1075+81_1075+85del
NM_000391.4:c.1075+81_1075+85del MANE Select	NP_000382.3:n.1075+81_1075+85del