Canonical Allele Identifier: CA2790314332

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617148_6617152del , CM000673.2:g.6617148_6617152del	GRCh38
NC_000011.9:g.6638379_6638383del , CM000673.1:g.6638379_6638383del	GRCh37
NC_000011.8:g.6594955_6594959del	NCBI36
NG_008653.1:g.7311_7315del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.397_401del	ENSP00000507321.1:p.Gly133ThrfsTer15
ENST00000299427.12:c.511_515del MANE Select	ENSP00000299427.6:p.Gly171ThrfsTer15
ENST00000428886.7:n.746_750del
ENST00000436873.7:c.312+150_312+154del
ENST00000524788.2:n.1670_1674del
ENST00000524903.2:n.1786_1790del
ENST00000528807.2:n.167_171del
ENST00000530040.2:n.479+208_479+212del
ENST00000533371.6:c.-219_-215del	ENSP00000437066.1:n.-219_-215del
ENST00000534644.6:n.459_463del
ENST00000642892.1:c.-219_-215del	ENSP00000494165.1:n.-219_-215del
ENST00000643439.1:c.*251_*255del	ENSP00000495849.1:n.*251_*255del
ENST00000643479.1:n.540_544del
ENST00000643516.1:c.395+150_395+154del
ENST00000644151.1:n.1950_1954del
ENST00000644218.1:c.511_515del	ENSP00000493574.1:p.Gly171ThrfsTer15
ENST00000644683.1:c.453_457del	ENSP00000494085.1:p.Trp151Ter
ENST00000644810.1:c.232_236del	ENSP00000495895.1:p.Gly78ThrfsTer15
ENST00000644831.1:n.687_691del
ENST00000644933.1:c.-219_-215del	ENSP00000496133.1:n.-219_-215del
ENST00000645020.1:n.1686_1690del
ENST00000645285.1:c.-219_-215del	ENSP00000495058.1:n.-219_-215del
ENST00000645331.1:n.877_881del
ENST00000645620.1:c.-219_-215del	ENSP00000493657.1:n.-219_-215del
ENST00000646777.1:n.687_691del
ENST00000647016.1:n.991_995del
ENST00000647152.1:c.-219_-215del	ENSP00000495893.1:n.-219_-215del
ENST00000647209.1:c.*380_*384del	ENSP00000495558.1:n.*380_*384del
ENST00000647346.1:n.1531_1535del
ENST00000299427.10:c.511_515del	ENSP00000299427.6:p.Gly171ThrfsTer15
ENST00000428886.6:n.680_684del
ENST00000436873.6:c.450+208_450+212del	ENSP00000398136.2:n.450+208_450+212del
ENST00000524788.1:n.211_215del
ENST00000528571.5:c.*251_*255del	ENSP00000434647.1:n.*251_*255del
ENST00000528807.1:n.61_65del
ENST00000533371.5:c.-219_-215del	ENSP00000437066.1:n.-219_-215del
ENST00000534644.5:n.496_500del
ENST00000611494.4:c.511_515del	ENSP00000484546.1:p.Gly171ThrfsTer15
NM_000391.3:c.511_515del	NP_000382.3:p.Gly171ThrfsTer15
NM_000391.4:c.511_515del MANE Select	NP_000382.3:p.Gly171ThrfsTer15