Canonical Allele Identifier: CA1950237935

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617075_6617076delinsAG , CM000673.2:g.6617075_6617076delinsAG	GRCh38
NC_000011.9:g.6638306_6638307delinsAG , CM000673.1:g.6638306_6638307delinsAG	GRCh37
NC_000011.8:g.6594882_6594883delinsAG	NCBI36
NG_008653.1:g.7386_7387delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.472_473delinsCT	ENSP00000507321.1:p.Leu158=
ENST00000299427.12:c.586_587delinsCT MANE Select	ENSP00000299427.6:p.Leu196=
ENST00000428886.7:n.821_822delinsCT
ENST00000436873.7:c.312+225_312+226delinsCT
ENST00000524788.2:n.1745_1746delinsCT
ENST00000524903.2:n.1861_1862delinsCT
ENST00000528807.2:n.242_243delinsCT
ENST00000530040.2:n.479+283_479+284delinsCT
ENST00000533371.6:c.-144_-143delinsCT	ENSP00000437066.1:n.-144_-143delinsCT
ENST00000534644.6:n.534_535delinsCT
ENST00000642892.1:c.-144_-143delinsCT	ENSP00000494165.1:n.-144_-143delinsCT
ENST00000643439.1:c.*326_*327delinsCT	ENSP00000495849.1:n.*326_*327delinsCT
ENST00000643479.1:n.615_616delinsCT
ENST00000643516.1:c.395+225_395+226delinsCT
ENST00000644151.1:n.2025_2026delinsCT
ENST00000644218.1:c.586_587delinsCT	ENSP00000493574.1:p.Leu196=
ENST00000644683.1:c.*39_*40delinsCT	ENSP00000494085.1:n.*39_*40delinsCT
ENST00000644810.1:c.307_308delinsCT	ENSP00000495895.1:p.Leu103=
ENST00000644831.1:n.762_763delinsCT
ENST00000644933.1:c.-144_-143delinsCT	ENSP00000496133.1:n.-144_-143delinsCT
ENST00000645020.1:n.1761_1762delinsCT
ENST00000645285.1:c.-144_-143delinsCT	ENSP00000495058.1:n.-144_-143delinsCT
ENST00000645331.1:n.952_953delinsCT
ENST00000645620.1:c.-144_-143delinsCT	ENSP00000493657.1:n.-144_-143delinsCT
ENST00000646777.1:n.762_763delinsCT
ENST00000647016.1:n.1066_1067delinsCT
ENST00000647152.1:c.-144_-143delinsCT	ENSP00000495893.1:n.-144_-143delinsCT
ENST00000647209.1:c.*455_*456delinsCT	ENSP00000495558.1:n.*455_*456delinsCT
ENST00000647346.1:n.1606_1607delinsCT
ENST00000299427.10:c.586_587delinsCT	ENSP00000299427.6:p.Leu196=
ENST00000428886.6:n.755_756delinsCT
ENST00000436873.6:c.450+283_450+284delinsCT	ENSP00000398136.2:n.450+283_450+284delinsCT
ENST00000524788.1:n.286_287delinsCT
ENST00000528571.5:c.*326_*327delinsCT	ENSP00000434647.1:n.*326_*327delinsCT
ENST00000528807.1:n.136_137delinsCT
ENST00000533371.5:c.-144_-143delinsCT	ENSP00000437066.1:n.-144_-143delinsCT
ENST00000534644.5:n.571_572delinsCT
ENST00000611494.4:c.586_587delinsCT	ENSP00000484546.1:p.Leu196=
NM_000391.3:c.586_587delinsCT	NP_000382.3:p.Leu196=
NM_000391.4:c.586_587delinsCT MANE Select	NP_000382.3:p.Leu196=