Canonical Allele Identifier: CA2790314485
Gene: TPP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6618007_6618008insA , CM000673.2:g.6618007_6618008insA GRCh38
NC_000011.9:g.6639238_6639239insA , CM000673.1:g.6639238_6639239insA GRCh37
NC_000011.8:g.6595814_6595815insA NCBI36
NG_008653.1:g.6454_6455insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.116-232_116-231insT ENSP00000507321.1:n.116-232_116-231insT
ENST00000299427.12:c.230-232_230-231insT MANE Select ENSP00000299427.6:n.230-232_230-231insT
ENST00000428886.7:n.318-232_318-231insT
ENST00000436873.7:c.34-232_34-231insT
ENST00000524788.2:n.1010_1011insT
ENST00000524903.2:n.1126_1127insT
ENST00000528571.6:c.90-232_90-231insT ENSP00000434647.1:n.90-232_90-231insT
ENST00000530040.2:n.259-232_259-231insT
ENST00000533371.6:c.-500-232_-500-231insT ENSP00000437066.1:n.-500-232_-500-231insT
ENST00000534644.6:n.231-232_231-231insT
ENST00000642892.1:c.-447-232_-447-231insT ENSP00000494165.1:n.-447-232_-447-231insT
ENST00000643439.1:c.90-232_90-231insT ENSP00000495849.1:n.90-232_90-231insT
ENST00000643479.1:n.259-232_259-231insT
ENST00000643516.1:c.117-232_117-231insT
ENST00000644151.1:n.1290_1291insT
ENST00000644218.1:c.230-232_230-231insT ENSP00000493574.1:n.230-232_230-231insT
ENST00000644683.1:c.230-232_230-231insT ENSP00000494085.1:n.230-232_230-231insT
ENST00000644810.1:c.229+768_229+769insT ENSP00000495895.1:n.229+768_229+769insT
ENST00000644831.1:n.259-232_259-231insT
ENST00000644933.1:c.-500-232_-500-231insT ENSP00000496133.1:n.-500-232_-500-231insT
ENST00000645020.1:n.1026_1027insT
ENST00000645285.1:c.-500-232_-500-231insT ENSP00000495058.1:n.-500-232_-500-231insT
ENST00000645331.1:n.252-232_252-231insT
ENST00000645620.1:c.-442-232_-442-231insT ENSP00000493657.1:n.-442-232_-442-231insT
ENST00000646777.1:n.259-232_259-231insT
ENST00000647016.1:n.331_332insT
ENST00000647152.1:c.-500-232_-500-231insT ENSP00000495893.1:n.-500-232_-500-231insT
ENST00000647209.1:c.*99-232_*99-231insT ENSP00000495558.1:n.*99-232_*99-231insT
ENST00000647346.1:n.1018_1019insT
ENST00000299427.10:c.230-232_230-231insT ENSP00000299427.6:n.230-232_230-231insT
ENST00000428886.6:n.252-232_252-231insT
ENST00000436873.6:c.230-232_230-231insT ENSP00000398136.2:n.230-232_230-231insT
ENST00000528571.5:c.90-232_90-231insT ENSP00000434647.1:n.90-232_90-231insT
ENST00000528917.1:n.531-232_531-231insT
ENST00000530040.1:n.342-232_342-231insT
ENST00000533371.5:c.-500-232_-500-231insT ENSP00000437066.1:n.-500-232_-500-231insT
ENST00000534644.5:n.215-232_215-231insT
ENST00000611494.4:c.230-232_230-231insT ENSP00000484546.1:n.230-232_230-231insT
NM_000391.3:c.230-232_230-231insT NP_000382.3:n.230-232_230-231insT
NM_000391.4:c.230-232_230-231insT MANE Select NP_000382.3:n.230-232_230-231insT