Canonical Allele Identifier: CA1950232531

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614547_6614548delinsCA , CM000673.2:g.6614547_6614548delinsCA	GRCh38
NC_000011.9:g.6635778_6635779delinsCA , CM000673.1:g.6635778_6635779delinsCA	GRCh37
NC_000011.8:g.6592354_6592355delinsCA	NCBI36
NG_008653.1:g.9914_9915delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1576_1577delinsTG	ENSP00000507321.1:p.Ter526=
ENST00000299427.12:c.1690_1691delinsTG MANE Select	ENSP00000299427.6:p.Ter564=
ENST00000524611.2:n.729_730delinsTG
ENST00000533371.6:c.961_962delinsTG	ENSP00000437066.1:p.Ter321=
ENST00000642892.1:c.961_962delinsTG	ENSP00000494165.1:p.Ter321=
ENST00000643342.1:c.763_764delinsTG
ENST00000643439.1:c.*1430_*1431delinsTG	ENSP00000495849.1:n.*1430_*1431delinsTG
ENST00000643479.1:n.1876_1877delinsTG
ENST00000643516.1:c.1199_1200delinsTG
ENST00000644218.1:c.1501_1502delinsTG	ENSP00000493574.1:p.Ter501=
ENST00000644683.1:c.*1143_*1144delinsTG	ENSP00000494085.1:n.*1143_*1144delinsTG
ENST00000644810.1:c.1411_1412delinsTG	ENSP00000495895.1:p.Ter471=
ENST00000644831.1:n.1866_1867delinsTG
ENST00000644933.1:c.*556_*557delinsTG	ENSP00000496133.1:n.*556_*557delinsTG
ENST00000645285.1:c.*556_*557delinsTG	ENSP00000495058.1:n.*556_*557delinsTG
ENST00000645331.1:n.2895_2896delinsTG
ENST00000645620.1:c.961_962delinsTG	ENSP00000493657.1:p.Ter321=
ENST00000646691.1:n.1577_1578delinsTG
ENST00000646777.1:n.2023_2024delinsTG
ENST00000647016.1:n.2170_2171delinsTG
ENST00000647152.1:c.961_962delinsTG	ENSP00000495893.1:p.Ter321=
ENST00000647209.1:c.*1559_*1560delinsTG	ENSP00000495558.1:n.*1559_*1560delinsTG
ENST00000647346.1:n.2710_2711delinsTG
ENST00000299427.10:c.1690_1691delinsTG	ENSP00000299427.6:p.Ter564=
ENST00000533371.5:c.961_962delinsTG	ENSP00000437066.1:p.Ter321=
ENST00000611494.4:c.*18_*19delinsTG	ENSP00000484546.1:n.*18_*19delinsTG
NM_000391.3:c.1690_1691delinsTG	NP_000382.3:p.Ter564=
NM_000391.4:c.1690_1691delinsTG MANE Select	NP_000382.3:p.Ter564=