Canonical Allele Identifier: CA2580084016

Gene: TPP1

Linked Data

• ClinVar Variation Id: 2102315
• ClinVar RCV Id: RCV003037658

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617139_6617143del , CM000673.2:g.6617139_6617143del	GRCh38
NC_000011.9:g.6638370_6638374del , CM000673.1:g.6638370_6638374del	GRCh37
NC_000011.8:g.6594946_6594950del	NCBI36
NG_008653.1:g.7320_7324del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.406_410del	ENSP00000507321.1:p.His136PhefsTer12
ENST00000299427.12:c.520_524del MANE Select	ENSP00000299427.6:p.His174PhefsTer12
ENST00000428886.7:n.755_759del
ENST00000436873.7:c.312+159_312+163del
ENST00000524788.2:n.1679_1683del
ENST00000524903.2:n.1795_1799del
ENST00000528807.2:n.176_180del
ENST00000530040.2:n.479+217_479+221del
ENST00000533371.6:c.-210_-206del	ENSP00000437066.1:n.-210_-206del
ENST00000534644.6:n.468_472del
ENST00000642892.1:c.-210_-206del	ENSP00000494165.1:n.-210_-206del
ENST00000643439.1:c.*260_*264del	ENSP00000495849.1:n.*260_*264del
ENST00000643479.1:n.549_553del
ENST00000643516.1:c.395+159_395+163del
ENST00000644151.1:n.1959_1963del
ENST00000644218.1:c.520_524del	ENSP00000493574.1:p.His174PhefsTer12
ENST00000644683.1:c.462_466del	ENSP00000494085.1:p.Thr155PhefsTer?
ENST00000644810.1:c.241_245del	ENSP00000495895.1:p.His81PhefsTer12
ENST00000644831.1:n.696_700del
ENST00000644933.1:c.-210_-206del	ENSP00000496133.1:n.-210_-206del
ENST00000645020.1:n.1695_1699del
ENST00000645285.1:c.-210_-206del	ENSP00000495058.1:n.-210_-206del
ENST00000645331.1:n.886_890del
ENST00000645620.1:c.-210_-206del	ENSP00000493657.1:n.-210_-206del
ENST00000646777.1:n.696_700del
ENST00000647016.1:n.1000_1004del
ENST00000647152.1:c.-210_-206del	ENSP00000495893.1:n.-210_-206del
ENST00000647209.1:c.*389_*393del	ENSP00000495558.1:n.*389_*393del
ENST00000647346.1:n.1540_1544del
ENST00000299427.10:c.520_524del	ENSP00000299427.6:p.His174PhefsTer12
ENST00000428886.6:n.689_693del
ENST00000436873.6:c.450+217_450+221del	ENSP00000398136.2:n.450+217_450+221del
ENST00000524788.1:n.220_224del
ENST00000528571.5:c.*260_*264del	ENSP00000434647.1:n.*260_*264del
ENST00000528807.1:n.70_74del
ENST00000533371.5:c.-210_-206del	ENSP00000437066.1:n.-210_-206del
ENST00000534644.5:n.505_509del
ENST00000611494.4:c.520_524del	ENSP00000484546.1:p.His174PhefsTer12
NM_000391.3:c.520_524del	NP_000382.3:p.His174PhefsTer12
NM_000391.4:c.520_524del MANE Select	NP_000382.3:p.His174PhefsTer12