Canonical Allele Identifier: CA2574741049

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614547_6614550del , CM000673.2:g.6614547_6614550del	GRCh38
NC_000011.9:g.6635778_6635781del , CM000673.1:g.6635778_6635781del	GRCh37
NC_000011.8:g.6592354_6592357del	NCBI36
NG_008653.1:g.9912_9915del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1574_1577del	ENSP00000507321.1:p.Pro525HisfsTer14
ENST00000299427.12:c.1688_1691del MANE Select	ENSP00000299427.6:p.Pro563HisfsTer14
ENST00000524611.2:n.727_730del
ENST00000533371.6:c.959_962del	ENSP00000437066.1:p.Pro320HisfsTer14
ENST00000642892.1:c.959_962del	ENSP00000494165.1:p.Pro320HisfsTer14
ENST00000643342.1:c.761_764del
ENST00000643439.1:c.*1428_*1431del	ENSP00000495849.1:n.*1428_*1431del
ENST00000643479.1:n.1874_1877del
ENST00000643516.1:c.1197_1200del
ENST00000644218.1:c.1499_1502del	ENSP00000493574.1:p.Pro500HisfsTer14
ENST00000644683.1:c.*1141_*1144del	ENSP00000494085.1:n.*1141_*1144del
ENST00000644810.1:c.1409_1412del	ENSP00000495895.1:p.Pro470HisfsTer14
ENST00000644831.1:n.1864_1867del
ENST00000644933.1:c.*554_*557del	ENSP00000496133.1:n.*554_*557del
ENST00000645285.1:c.*554_*557del	ENSP00000495058.1:n.*554_*557del
ENST00000645331.1:n.2893_2896del
ENST00000645620.1:c.959_962del	ENSP00000493657.1:p.Pro320HisfsTer14
ENST00000646691.1:n.1575_1578del
ENST00000646777.1:n.2021_2024del
ENST00000647016.1:n.2168_2171del
ENST00000647152.1:c.959_962del	ENSP00000495893.1:p.Pro320HisfsTer14
ENST00000647209.1:c.*1557_*1560del	ENSP00000495558.1:n.*1557_*1560del
ENST00000647346.1:n.2708_2711del
ENST00000299427.10:c.1688_1691del	ENSP00000299427.6:p.Pro563HisfsTer14
ENST00000533371.5:c.959_962del	ENSP00000437066.1:p.Pro320HisfsTer14
ENST00000611494.4:c.*16_*19del	ENSP00000484546.1:n.*16_*19del
NM_000391.3:c.1688_1691del	NP_000382.3:p.Pro563HisfsTer14
NM_000391.4:c.1688_1691del MANE Select	NP_000382.3:p.Pro563HisfsTer14