Canonical Allele Identifier: CA2790314378

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617836_6617844del , CM000673.2:g.6617836_6617844del	GRCh38
NC_000011.9:g.6639067_6639075del , CM000673.1:g.6639067_6639075del	GRCh37
NC_000011.8:g.6595643_6595651del	NCBI36
NG_008653.1:g.6618_6626del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.116-68_116-60del	ENSP00000507321.1:n.116-68_116-60del
ENST00000299427.12:c.230-68_230-60del MANE Select	ENSP00000299427.6:n.230-68_230-60del
ENST00000428886.7:n.318-68_318-60del
ENST00000436873.7:c.34-68_34-60del
ENST00000524788.2:n.1174_1182del
ENST00000524903.2:n.1290_1298del
ENST00000528571.6:c.90-68_90-60del	ENSP00000434647.1:n.90-68_90-60del
ENST00000530040.2:n.259-68_259-60del
ENST00000533371.6:c.-500-68_-500-60del	ENSP00000437066.1:n.-500-68_-500-60del
ENST00000534644.6:n.231-68_231-60del
ENST00000642892.1:c.-447-68_-447-60del	ENSP00000494165.1:n.-447-68_-447-60del
ENST00000643439.1:c.90-68_90-60del	ENSP00000495849.1:n.90-68_90-60del
ENST00000643479.1:n.259-68_259-60del
ENST00000643516.1:c.117-68_117-60del
ENST00000644151.1:n.1454_1462del
ENST00000644218.1:c.230-68_230-60del	ENSP00000493574.1:n.230-68_230-60del
ENST00000644683.1:c.230-68_230-60del	ENSP00000494085.1:n.230-68_230-60del
ENST00000644810.1:c.230-691_230-683del	ENSP00000495895.1:n.230-691_230-683del
ENST00000644831.1:n.259-68_259-60del
ENST00000644933.1:c.-500-68_-500-60del	ENSP00000496133.1:n.-500-68_-500-60del
ENST00000645020.1:n.1190_1198del
ENST00000645285.1:c.-500-68_-500-60del	ENSP00000495058.1:n.-500-68_-500-60del
ENST00000645331.1:n.252-68_252-60del
ENST00000645620.1:c.-442-68_-442-60del	ENSP00000493657.1:n.-442-68_-442-60del
ENST00000646777.1:n.259-68_259-60del
ENST00000647016.1:n.495_503del
ENST00000647152.1:c.-500-68_-500-60del	ENSP00000495893.1:n.-500-68_-500-60del
ENST00000647209.1:c.*99-68_*99-60del	ENSP00000495558.1:n.*99-68_*99-60del
ENST00000647346.1:n.1182_1190del
ENST00000299427.10:c.230-68_230-60del	ENSP00000299427.6:n.230-68_230-60del
ENST00000428886.6:n.252-68_252-60del
ENST00000436873.6:c.230-68_230-60del	ENSP00000398136.2:n.230-68_230-60del
ENST00000528571.5:c.90-68_90-60del	ENSP00000434647.1:n.90-68_90-60del
ENST00000528917.1:n.531-68_531-60del
ENST00000530040.1:n.342-68_342-60del
ENST00000533371.5:c.-500-68_-500-60del	ENSP00000437066.1:n.-500-68_-500-60del
ENST00000534644.5:n.215-68_215-60del
ENST00000611494.4:c.230-68_230-60del	ENSP00000484546.1:n.230-68_230-60del
NM_000391.3:c.230-68_230-60del	NP_000382.3:n.230-68_230-60del
NM_000391.4:c.230-68_230-60del MANE Select	NP_000382.3:n.230-68_230-60del