Canonical Allele Identifier: CA2740093624

Gene: TPP1

Linked Data

• ClinVar Variation Id: 2982251
• ClinVar RCV Id: RCV003842897

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617611del , CM000673.2:g.6617611del	GRCh38
NC_000011.9:g.6638842del , CM000673.1:g.6638842del	GRCh37
NC_000011.8:g.6595418del	NCBI36
NG_008653.1:g.6852del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.266+16del	ENSP00000507321.1:n.266+16del
ENST00000299427.12:c.380+16del MANE Select	ENSP00000299427.6:n.380+16del
ENST00000428886.7:n.468+16del
ENST00000436873.7:c.184+16del
ENST00000524788.2:n.1392+16del
ENST00000524903.2:n.1508+16del
ENST00000528571.6:c.*120+16del	ENSP00000434647.1:n.*120+16del
ENST00000530040.2:n.409+16del
ENST00000533371.6:c.-350+16del	ENSP00000437066.1:n.-350+16del
ENST00000534644.6:n.381+16del
ENST00000642892.1:c.-297+16del	ENSP00000494165.1:n.-297+16del
ENST00000643439.1:c.*120+16del	ENSP00000495849.1:n.*120+16del
ENST00000643479.1:n.409+16del
ENST00000643516.1:c.267+16del
ENST00000644151.1:n.1672+16del
ENST00000644218.1:c.380+16del	ENSP00000493574.1:n.380+16del
ENST00000644683.1:c.380+16del	ENSP00000494085.1:n.380+16del
ENST00000644810.1:c.230-457del	ENSP00000495895.1:n.230-457del
ENST00000644831.1:n.409+16del
ENST00000644933.1:c.-350+16del	ENSP00000496133.1:n.-350+16del
ENST00000645020.1:n.1408+16del
ENST00000645285.1:c.-350+16del	ENSP00000495058.1:n.-350+16del
ENST00000645331.1:n.418del
ENST00000645620.1:c.-292+16del	ENSP00000493657.1:n.-292+16del
ENST00000646777.1:n.409+16del
ENST00000647016.1:n.713+16del
ENST00000647152.1:c.-350+16del	ENSP00000495893.1:n.-350+16del
ENST00000647209.1:c.*249+16del	ENSP00000495558.1:n.*249+16del
ENST00000647346.1:n.1400+16del
ENST00000299427.10:c.380+16del	ENSP00000299427.6:n.380+16del
ENST00000428886.6:n.402+16del
ENST00000436873.6:c.380+16del	ENSP00000398136.2:n.380+16del
ENST00000528571.5:c.*120+16del	ENSP00000434647.1:n.*120+16del
ENST00000530040.1:n.492+16del
ENST00000533371.5:c.-350+16del	ENSP00000437066.1:n.-350+16del
ENST00000534644.5:n.365+16del
ENST00000611494.4:c.380+16del	ENSP00000484546.1:n.380+16del
NM_000391.3:c.380+16del	NP_000382.3:n.380+16del
NM_000391.4:c.380+16del MANE Select	NP_000382.3:n.380+16del