Canonical Allele Identifier: CA1950237433

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616857_6616858delinsGA , CM000673.2:g.6616857_6616858delinsGA	GRCh38
NC_000011.9:g.6638088_6638089delinsGA , CM000673.1:g.6638088_6638089delinsGA	GRCh37
NC_000011.8:g.6594664_6594665delinsGA	NCBI36
NG_008653.1:g.7604_7605delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.575_576delinsTC	ENSP00000507321.1:p.Phe192=
ENST00000299427.12:c.689_690delinsTC MANE Select	ENSP00000299427.6:p.Phe230=
ENST00000436873.7:c.312+443_312+444delinsTC
ENST00000524788.2:n.1848_1849delinsTC
ENST00000524903.2:n.1964_1965delinsTC
ENST00000528807.2:n.345_346delinsTC
ENST00000530040.2:n.480-355_480-354delinsTC
ENST00000533371.6:c.-41_-40delinsTC	ENSP00000437066.1:n.-41_-40delinsTC
ENST00000642892.1:c.-41_-40delinsTC	ENSP00000494165.1:n.-41_-40delinsTC
ENST00000643439.1:c.*429_*430delinsTC	ENSP00000495849.1:n.*429_*430delinsTC
ENST00000643479.1:n.718_719delinsTC
ENST00000643516.1:c.396-355_396-354delinsTC
ENST00000644151.1:n.2128_2129delinsTC
ENST00000644218.1:c.689_690delinsTC	ENSP00000493574.1:p.Phe230=
ENST00000644683.1:c.*142_*143delinsTC	ENSP00000494085.1:n.*142_*143delinsTC
ENST00000644810.1:c.410_411delinsTC	ENSP00000495895.1:p.Phe137=
ENST00000644831.1:n.865_866delinsTC
ENST00000644933.1:c.-41_-40delinsTC	ENSP00000496133.1:n.-41_-40delinsTC
ENST00000645020.1:n.1979_1980delinsTC
ENST00000645285.1:c.-41_-40delinsTC	ENSP00000495058.1:n.-41_-40delinsTC
ENST00000645331.1:n.1055_1056delinsTC
ENST00000645620.1:c.-41_-40delinsTC	ENSP00000493657.1:n.-41_-40delinsTC
ENST00000646777.1:n.865_866delinsTC
ENST00000647016.1:n.1169_1170delinsTC
ENST00000647152.1:c.-41_-40delinsTC	ENSP00000495893.1:n.-41_-40delinsTC
ENST00000647209.1:c.*558_*559delinsTC	ENSP00000495558.1:n.*558_*559delinsTC
ENST00000647346.1:n.1709_1710delinsTC
ENST00000299427.10:c.689_690delinsTC	ENSP00000299427.6:p.Phe230=
ENST00000436873.6:c.451-355_451-354delinsTC	ENSP00000398136.2:n.451-355_451-354delinsTC
ENST00000524788.1:n.389_390delinsTC
ENST00000528807.1:n.239_240delinsTC
ENST00000533371.5:c.-41_-40delinsTC	ENSP00000437066.1:n.-41_-40delinsTC
ENST00000611494.4:c.689_690delinsTC	ENSP00000484546.1:p.Phe230=
NM_000391.3:c.689_690delinsTC	NP_000382.3:p.Phe230=
NM_000391.4:c.689_690delinsTC MANE Select	NP_000382.3:p.Phe230=