Canonical Allele Identifier: CA2580084013

Gene: TPP1

Linked Data

• ClinVar Variation Id: 2201850
• ClinVar RCV Id: RCV002644536

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617045del , CM000673.2:g.6617045del	GRCh38
NC_000011.9:g.6638276del , CM000673.1:g.6638276del	GRCh37
NC_000011.8:g.6594852del	NCBI36
NG_008653.1:g.7417del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.503del	ENSP00000507321.1:p.Arg168LeufsTer6
ENST00000299427.12:c.617del MANE Select	ENSP00000299427.6:p.Arg206LeufsTer6
ENST00000436873.7:c.312+256del
ENST00000524788.2:n.1776del
ENST00000524903.2:n.1892del
ENST00000528807.2:n.273del
ENST00000530040.2:n.479+314del
ENST00000533371.6:c.-113del	ENSP00000437066.1:n.-113del
ENST00000534644.6:n.565del
ENST00000642892.1:c.-113del	ENSP00000494165.1:n.-113del
ENST00000643439.1:c.*357del	ENSP00000495849.1:n.*357del
ENST00000643479.1:n.646del
ENST00000643516.1:c.395+256del
ENST00000644151.1:n.2056del
ENST00000644218.1:c.617del	ENSP00000493574.1:p.Arg206LeufsTer6
ENST00000644683.1:c.*70del	ENSP00000494085.1:n.*70del
ENST00000644810.1:c.338del	ENSP00000495895.1:p.Arg113LeufsTer6
ENST00000644831.1:n.793del
ENST00000644933.1:c.-113del	ENSP00000496133.1:n.-113del
ENST00000645020.1:n.1792del
ENST00000645285.1:c.-113del	ENSP00000495058.1:n.-113del
ENST00000645331.1:n.983del
ENST00000645620.1:c.-113del	ENSP00000493657.1:n.-113del
ENST00000646777.1:n.793del
ENST00000647016.1:n.1097del
ENST00000647152.1:c.-113del	ENSP00000495893.1:n.-113del
ENST00000647209.1:c.*486del	ENSP00000495558.1:n.*486del
ENST00000647346.1:n.1637del
ENST00000299427.10:c.617del	ENSP00000299427.6:p.Arg206LeufsTer6
ENST00000428886.6:n.786del
ENST00000436873.6:c.450+314del	ENSP00000398136.2:n.450+314del
ENST00000524788.1:n.317del
ENST00000528571.5:c.*357del	ENSP00000434647.1:n.*357del
ENST00000528807.1:n.167del
ENST00000533371.5:c.-113del	ENSP00000437066.1:n.-113del
ENST00000534644.5:n.602del
ENST00000611494.4:c.617del	ENSP00000484546.1:p.Arg206LeufsTer6
NM_000391.3:c.617del	NP_000382.3:p.Arg206LeufsTer6
NM_000391.4:c.617del MANE Select	NP_000382.3:p.Arg206LeufsTer6