Canonical Allele Identifier: CA912972910
Gene: TPP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6614617_6614628del , CM000673.2:g.6614617_6614628del GRCh38
NC_000011.9:g.6635848_6635859del , CM000673.1:g.6635848_6635859del GRCh37
NC_000011.8:g.6592424_6592435del NCBI36
NG_008653.1:g.9837_9848del

Transcript Alleles

HGVS Amino-acid change
ENST00000682424.1:c.1499_1510del ENSP00000507321.1:p.Ser500_Gly503del
ENST00000299427.12:c.1613_1624del MANE Select ENSP00000299427.6:p.Ser538_Gly541del
ENST00000524611.2:n.652_663del
ENST00000524924.2:n.733_744del
ENST00000533371.6:c.884_895del ENSP00000437066.1:p.Ser295_Gly298del
ENST00000642892.1:c.884_895del ENSP00000494165.1:p.Ser295_Gly298del
ENST00000643342.1:c.686_697del
ENST00000643439.1:c.*1353_*1364del ENSP00000495849.1:n.*1353_*1364del
ENST00000643479.1:n.1799_1810del
ENST00000643516.1:c.1122_1133del
ENST00000644218.1:c.1424_1435del ENSP00000493574.1:p.Ser475_Gly478del
ENST00000644683.1:c.*1066_*1077del ENSP00000494085.1:n.*1066_*1077del
ENST00000644810.1:c.1334_1345del ENSP00000495895.1:p.Ser445_Gly448del
ENST00000644831.1:n.1789_1800del
ENST00000644933.1:c.*479_*490del ENSP00000496133.1:n.*479_*490del
ENST00000645285.1:c.*479_*490del ENSP00000495058.1:n.*479_*490del
ENST00000645331.1:n.2818_2829del
ENST00000645620.1:c.884_895del ENSP00000493657.1:p.Ser295_Gly298del
ENST00000646691.1:n.1500_1511del
ENST00000646777.1:n.1946_1957del
ENST00000647016.1:n.2093_2104del
ENST00000647152.1:c.884_895del ENSP00000495893.1:p.Ser295_Gly298del
ENST00000647209.1:c.*1482_*1493del ENSP00000495558.1:n.*1482_*1493del
ENST00000647346.1:n.2633_2644del
ENST00000299427.10:c.1613_1624del ENSP00000299427.6:p.Ser538_Gly541del
ENST00000533371.5:c.884_895del ENSP00000437066.1:p.Ser295_Gly298del
ENST00000611494.4:c.1613_1624del ENSP00000484546.1:p.Ser538_Gly541del
NM_000391.3:c.1613_1624del NP_000382.3:p.Ser538_Gly541del
NM_000391.4:c.1613_1624del MANE Select NP_000382.3:p.Ser538_Gly541del