Canonical Allele Identifier: CA2612256377

Gene: TPP1

Linked Data

• gnomAD v4: 11-6617637-CCAGCAAGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617641_6617648del , CM000673.2:g.6617641_6617648del	GRCh38
NC_000011.9:g.6638872_6638879del , CM000673.1:g.6638872_6638879del	GRCh37
NC_000011.8:g.6595448_6595455del	NCBI36
NG_008653.1:g.6817_6824del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.247_254del	ENSP00000507321.1:p.Thr83AlafsTer14
ENST00000299427.12:c.361_368del MANE Select	ENSP00000299427.6:p.Thr121AlafsTer14
ENST00000428886.7:n.449_456del
ENST00000436873.7:c.165_172del
ENST00000524788.2:n.1373_1380del
ENST00000524903.2:n.1489_1496del
ENST00000528571.6:c.*101_*108del	ENSP00000434647.1:n.*101_*108del
ENST00000530040.2:n.390_397del
ENST00000533371.6:c.-369_-362del	ENSP00000437066.1:n.-369_-362del
ENST00000534644.6:n.362_369del
ENST00000642892.1:c.-316_-309del	ENSP00000494165.1:n.-316_-309del
ENST00000643439.1:c.*101_*108del	ENSP00000495849.1:n.*101_*108del
ENST00000643479.1:n.390_397del
ENST00000643516.1:c.248_255del
ENST00000644151.1:n.1653_1660del
ENST00000644218.1:c.361_368del	ENSP00000493574.1:p.Thr121AlafsTer14
ENST00000644683.1:c.361_368del	ENSP00000494085.1:p.Thr121AlafsTer14
ENST00000644810.1:c.230-492_230-485del	ENSP00000495895.1:n.230-492_230-485del
ENST00000644831.1:n.390_397del
ENST00000644933.1:c.-369_-362del	ENSP00000496133.1:n.-369_-362del
ENST00000645020.1:n.1389_1396del
ENST00000645285.1:c.-369_-362del	ENSP00000495058.1:n.-369_-362del
ENST00000645331.1:n.383_390del
ENST00000645620.1:c.-311_-304del	ENSP00000493657.1:n.-311_-304del
ENST00000646777.1:n.390_397del
ENST00000647016.1:n.694_701del
ENST00000647152.1:c.-369_-362del	ENSP00000495893.1:n.-369_-362del
ENST00000647209.1:c.*230_*237del	ENSP00000495558.1:n.*230_*237del
ENST00000647346.1:n.1381_1388del
ENST00000299427.10:c.361_368del	ENSP00000299427.6:p.Thr121AlafsTer14
ENST00000428886.6:n.383_390del
ENST00000436873.6:c.361_368del	ENSP00000398136.2:p.Thr121AlafsTer14
ENST00000528571.5:c.*101_*108del	ENSP00000434647.1:n.*101_*108del
ENST00000530040.1:n.473_480del
ENST00000533371.5:c.-369_-362del	ENSP00000437066.1:n.-369_-362del
ENST00000534644.5:n.346_353del
ENST00000611494.4:c.361_368del	ENSP00000484546.1:p.Thr121AlafsTer14
NM_000391.3:c.361_368del	NP_000382.3:p.Thr121AlafsTer14
NM_000391.4:c.361_368del MANE Select	NP_000382.3:p.Thr121AlafsTer14