Canonical Allele Identifier: CA1950237912

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617063_6617064delinsAC , CM000673.2:g.6617063_6617064delinsAC	GRCh38
NC_000011.9:g.6638294_6638295delinsAC , CM000673.1:g.6638294_6638295delinsAC	GRCh37
NC_000011.8:g.6594870_6594871delinsAC	NCBI36
NG_008653.1:g.7398_7399delinsGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.484_485delinsGT	ENSP00000507321.1:p.Val162=
ENST00000299427.12:c.598_599delinsGT MANE Select	ENSP00000299427.6:p.Val200=
ENST00000428886.7:n.833_834delinsGT
ENST00000436873.7:c.312+237_312+238delinsGT
ENST00000524788.2:n.1757_1758delinsGT
ENST00000524903.2:n.1873_1874delinsGT
ENST00000528807.2:n.254_255delinsGT
ENST00000530040.2:n.479+295_479+296delinsGT
ENST00000533371.6:c.-132_-131delinsGT	ENSP00000437066.1:n.-132_-131delinsGT
ENST00000534644.6:n.546_547delinsGT
ENST00000642892.1:c.-132_-131delinsGT	ENSP00000494165.1:n.-132_-131delinsGT
ENST00000643439.1:c.*338_*339delinsGT	ENSP00000495849.1:n.*338_*339delinsGT
ENST00000643479.1:n.627_628delinsGT
ENST00000643516.1:c.395+237_395+238delinsGT
ENST00000644151.1:n.2037_2038delinsGT
ENST00000644218.1:c.598_599delinsGT	ENSP00000493574.1:p.Val200=
ENST00000644683.1:c.*51_*52delinsGT	ENSP00000494085.1:n.*51_*52delinsGT
ENST00000644810.1:c.319_320delinsGT	ENSP00000495895.1:p.Val107=
ENST00000644831.1:n.774_775delinsGT
ENST00000644933.1:c.-132_-131delinsGT	ENSP00000496133.1:n.-132_-131delinsGT
ENST00000645020.1:n.1773_1774delinsGT
ENST00000645285.1:c.-132_-131delinsGT	ENSP00000495058.1:n.-132_-131delinsGT
ENST00000645331.1:n.964_965delinsGT
ENST00000645620.1:c.-132_-131delinsGT	ENSP00000493657.1:n.-132_-131delinsGT
ENST00000646777.1:n.774_775delinsGT
ENST00000647016.1:n.1078_1079delinsGT
ENST00000647152.1:c.-132_-131delinsGT	ENSP00000495893.1:n.-132_-131delinsGT
ENST00000647209.1:c.*467_*468delinsGT	ENSP00000495558.1:n.*467_*468delinsGT
ENST00000647346.1:n.1618_1619delinsGT
ENST00000299427.10:c.598_599delinsGT	ENSP00000299427.6:p.Val200=
ENST00000428886.6:n.767_768delinsGT
ENST00000436873.6:c.450+295_450+296delinsGT	ENSP00000398136.2:n.450+295_450+296delins...
ENST00000524788.1:n.298_299delinsGT
ENST00000528571.5:c.*338_*339delinsGT	ENSP00000434647.1:n.*338_*339delinsGT
ENST00000528807.1:n.148_149delinsGT
ENST00000533371.5:c.-132_-131delinsGT	ENSP00000437066.1:n.-132_-131delinsGT
ENST00000534644.5:n.583_584delinsGT
ENST00000611494.4:c.598_599delinsGT	ENSP00000484546.1:p.Val200=
NM_000391.3:c.598_599delinsGT	NP_000382.3:p.Val200=
NM_000391.4:c.598_599delinsGT MANE Select	NP_000382.3:p.Val200=