Canonical Allele Identifier: CA2697548403

Gene: TPP1

Linked Data

• ClinVar Variation Id: 2768253
• ClinVar RCV Id: RCV003576283

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616745_6616749del , CM000673.2:g.6616745_6616749del	GRCh38
NC_000011.9:g.6637976_6637980del , CM000673.1:g.6637976_6637980del	GRCh37
NC_000011.8:g.6594552_6594556del	NCBI36
NG_008653.1:g.7721_7725del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.692_696del	ENSP00000507321.1:p.Ala231AspfsTer2
ENST00000299427.12:c.806_810del MANE Select	ENSP00000299427.6:p.Ala269AspfsTer2
ENST00000436873.7:c.312+560_312+564del
ENST00000524788.2:n.1965_1969del
ENST00000524903.2:n.2081_2085del
ENST00000528807.2:n.462_466del
ENST00000530040.2:n.480-238_480-234del
ENST00000533371.6:c.77_81del	ENSP00000437066.1:p.Ala26AspfsTer2
ENST00000642892.1:c.77_81del	ENSP00000494165.1:p.Ala26AspfsTer2
ENST00000643439.1:c.*546_*550del	ENSP00000495849.1:n.*546_*550del
ENST00000643479.1:n.835_839del
ENST00000643516.1:c.396-238_396-234del
ENST00000644151.1:n.2245_2249del
ENST00000644218.1:c.806_810del	ENSP00000493574.1:p.Ala269AspfsTer2
ENST00000644683.1:c.*259_*263del	ENSP00000494085.1:n.*259_*263del
ENST00000644810.1:c.527_531del	ENSP00000495895.1:p.Ala176AspfsTer2
ENST00000644831.1:n.982_986del
ENST00000644933.1:c.77_81del	ENSP00000496133.1:p.Ala26AspfsTer2
ENST00000645020.1:n.2096_2100del
ENST00000645285.1:c.77_81del	ENSP00000495058.1:p.Ala26AspfsTer2
ENST00000645331.1:n.1172_1176del
ENST00000645620.1:c.77_81del	ENSP00000493657.1:p.Ala26AspfsTer2
ENST00000646777.1:n.982_986del
ENST00000647016.1:n.1286_1290del
ENST00000647152.1:c.77_81del	ENSP00000495893.1:p.Ala26AspfsTer2
ENST00000647209.1:c.*675_*679del	ENSP00000495558.1:n.*675_*679del
ENST00000647346.1:n.1826_1830del
ENST00000299427.10:c.806_810del	ENSP00000299427.6:p.Ala269AspfsTer2
ENST00000436873.6:c.451-238_451-234del	ENSP00000398136.2:n.451-238_451-234del
ENST00000524788.1:n.506_510del
ENST00000528807.1:n.356_360del
ENST00000533371.5:c.77_81del	ENSP00000437066.1:p.Ala26AspfsTer2
ENST00000611494.4:c.806_810del	ENSP00000484546.1:p.Ala269AspfsTer2
NM_000391.3:c.806_810del	NP_000382.3:p.Ala269AspfsTer2
NM_000391.4:c.806_810del MANE Select	NP_000382.3:p.Ala269AspfsTer2