Canonical Allele Identifier: CA2790314368

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617518_6617546del , CM000673.2:g.6617518_6617546del	GRCh38
NC_000011.9:g.6638749_6638777del , CM000673.1:g.6638749_6638777del	GRCh37
NC_000011.8:g.6595325_6595353del	NCBI36
NG_008653.1:g.6918_6946del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.266+82_267-88del	ENSP00000507321.1:n.266+82_267-88del
ENST00000299427.12:c.380+82_381-88del MANE Select	ENSP00000299427.6:n.380+82_381-88del
ENST00000428886.7:n.468+82_469-88del
ENST00000436873.7:c.184+82_185-88del
ENST00000524788.2:n.1392+82_1393-88del
ENST00000524903.2:n.1508+82_1509-88del
ENST00000528571.6:c.*120+82_*121-88del	ENSP00000434647.1:n.*120+82_*121-88del
ENST00000530040.2:n.409+82_410-88del
ENST00000533371.6:c.-350+82_-349-88del	ENSP00000437066.1:n.-350+82_-349-88del
ENST00000534644.6:n.381+82_382-88del
ENST00000642892.1:c.-297+82_-296-88del	ENSP00000494165.1:n.-297+82_-296-88del
ENST00000643439.1:c.*120+82_*121-88del	ENSP00000495849.1:n.*120+82_*121-88del
ENST00000643479.1:n.409+82_410-88del
ENST00000643516.1:c.267+82_268-88del
ENST00000644151.1:n.1672+82_1673-88del
ENST00000644218.1:c.380+82_381-88del	ENSP00000493574.1:n.380+82_381-88del
ENST00000644683.1:c.380+82_381-88del	ENSP00000494085.1:n.380+82_381-88del
ENST00000644810.1:c.230-391_230-363del	ENSP00000495895.1:n.230-391_230-363del
ENST00000644831.1:n.409+82_410-88del
ENST00000644933.1:c.-350+82_-349-88del	ENSP00000496133.1:n.-350+82_-349-88del
ENST00000645020.1:n.1408+82_1409-88del
ENST00000645285.1:c.-350+82_-349-88del	ENSP00000495058.1:n.-350+82_-349-88del
ENST00000645331.1:n.484_512del
ENST00000645620.1:c.-292+82_-291-88del	ENSP00000493657.1:n.-292+82_-291-88del
ENST00000646777.1:n.409+82_410-88del
ENST00000647016.1:n.713+82_714-88del
ENST00000647152.1:c.-350+82_-349-88del	ENSP00000495893.1:n.-350+82_-349-88del
ENST00000647209.1:c.*249+82_*250-88del	ENSP00000495558.1:n.*249+82_*250-88del
ENST00000647346.1:n.1400+82_1401-88del
ENST00000299427.10:c.380+82_381-88del	ENSP00000299427.6:n.380+82_381-88del
ENST00000428886.6:n.402+82_403-88del
ENST00000436873.6:c.380+82_381-88del	ENSP00000398136.2:n.380+82_381-88del
ENST00000528571.5:c.*120+82_*121-88del	ENSP00000434647.1:n.*120+82_*121-88del
ENST00000530040.1:n.492+82_493-88del
ENST00000533371.5:c.-350+82_-349-88del	ENSP00000437066.1:n.-350+82_-349-88del
ENST00000534644.5:n.365+82_366-88del
ENST00000611494.4:c.380+82_381-88del	ENSP00000484546.1:n.380+82_381-88del
NM_000391.3:c.380+82_381-88del	NP_000382.3:n.380+82_381-88del
NM_000391.4:c.380+82_381-88del MANE Select	NP_000382.3:n.380+82_381-88del