Canonical Allele Identifier: CA2612255467

Gene: TPP1

Linked Data

• gnomAD v4: 11-6617021-TGTGAGGTCAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617024_6617033del , CM000673.2:g.6617024_6617033del	GRCh38
NC_000011.9:g.6638255_6638264del , CM000673.1:g.6638255_6638264del	GRCh37
NC_000011.8:g.6594831_6594840del	NCBI36
NG_008653.1:g.7431_7440del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.517_526del	ENSP00000507321.1:p.Leu173LysfsTer?
ENST00000299427.12:c.631_640del MANE Select	ENSP00000299427.6:p.Leu211LysfsTer?
ENST00000436873.7:c.312+270_312+279del
ENST00000524788.2:n.1790_1799del
ENST00000524903.2:n.1906_1915del
ENST00000528807.2:n.287_296del
ENST00000530040.2:n.479+328_479+337del
ENST00000533371.6:c.-99_-90del	ENSP00000437066.1:n.-99_-90del
ENST00000534644.6:n.579_588del
ENST00000642892.1:c.-99_-90del	ENSP00000494165.1:n.-99_-90del
ENST00000643439.1:c.*371_*380del	ENSP00000495849.1:n.*371_*380del
ENST00000643479.1:n.660_669del
ENST00000643516.1:c.395+270_395+279del
ENST00000644151.1:n.2070_2079del
ENST00000644218.1:c.631_640del	ENSP00000493574.1:p.Leu211LysfsTer?
ENST00000644683.1:c.*84_*93del	ENSP00000494085.1:n.*84_*93del
ENST00000644810.1:c.352_361del	ENSP00000495895.1:p.Leu118LysfsTer?
ENST00000644831.1:n.807_816del
ENST00000644933.1:c.-99_-90del	ENSP00000496133.1:n.-99_-90del
ENST00000645020.1:n.1806_1815del
ENST00000645285.1:c.-99_-90del	ENSP00000495058.1:n.-99_-90del
ENST00000645331.1:n.997_1006del
ENST00000645620.1:c.-99_-90del	ENSP00000493657.1:n.-99_-90del
ENST00000646777.1:n.807_816del
ENST00000647016.1:n.1111_1120del
ENST00000647152.1:c.-99_-90del	ENSP00000495893.1:n.-99_-90del
ENST00000647209.1:c.*500_*509del	ENSP00000495558.1:n.*500_*509del
ENST00000647346.1:n.1651_1660del
ENST00000299427.10:c.631_640del	ENSP00000299427.6:p.Leu211LysfsTer?
ENST00000428886.6:n.800_809del
ENST00000436873.6:c.450+328_450+337del	ENSP00000398136.2:n.450+328_450+337del
ENST00000524788.1:n.331_340del
ENST00000528571.5:c.*371_*380del	ENSP00000434647.1:n.*371_*380del
ENST00000528807.1:n.181_190del
ENST00000533371.5:c.-99_-90del	ENSP00000437066.1:n.-99_-90del
ENST00000534644.5:n.616_625del
ENST00000611494.4:c.631_640del	ENSP00000484546.1:p.Leu211LysfsTer?
NM_000391.3:c.631_640del	NP_000382.3:p.Leu211LysfsTer?
NM_000391.4:c.631_640del MANE Select	NP_000382.3:p.Leu211LysfsTer?