Canonical Allele Identifier: CA1950214815

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617311_6617312delinsAT , CM000673.2:g.6617311_6617312delinsAT	GRCh38
NC_000011.9:g.6638542_6638543delinsAT , CM000673.1:g.6638542_6638543delinsAT	GRCh37
NC_000011.8:g.6595118_6595119delinsAT	NCBI36
NG_008653.1:g.7150_7151delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.383_384delinsAT	ENSP00000507321.1:p.His128=
ENST00000299427.12:c.497_498delinsAT MANE Select	ENSP00000299427.6:p.His166=
ENST00000428886.7:n.585_586delinsAT
ENST00000436873.7:c.301_302delinsAT
ENST00000524788.2:n.1509_1510delinsAT
ENST00000524903.2:n.1625_1626delinsAT
ENST00000528571.6:c.*237_*238delinsAT	ENSP00000434647.1:n.*237_*238delinsAT
ENST00000528807.2:n.153_154delinsAT
ENST00000530040.2:n.479+47_479+48delinsAT
ENST00000533371.6:c.-233_-232delinsAT	ENSP00000437066.1:n.-233_-232delinsAT
ENST00000534644.6:n.456+42_456+43delinsAT
ENST00000642892.1:c.-222+42_-222+43delinsAT	ENSP00000494165.1:n.-222+42_-222+43delinsAT
ENST00000643439.1:c.*237_*238delinsAT	ENSP00000495849.1:n.*237_*238delinsAT
ENST00000643479.1:n.526_527delinsAT
ENST00000643516.1:c.384_385delinsAT
ENST00000644151.1:n.1789_1790delinsAT
ENST00000644218.1:c.497_498delinsAT	ENSP00000493574.1:p.His166=
ENST00000644683.1:c.450+47_450+48delinsAT	ENSP00000494085.1:n.450+47_450+48delinsAT
ENST00000644810.1:c.230-159_230-158delinsAT	ENSP00000495895.1:n.230-159_230-158delinsAT
ENST00000644831.1:n.526_527delinsAT
ENST00000644933.1:c.-233_-232delinsAT	ENSP00000496133.1:n.-233_-232delinsAT
ENST00000645020.1:n.1525_1526delinsAT
ENST00000645285.1:c.-233_-232delinsAT	ENSP00000495058.1:n.-233_-232delinsAT
ENST00000645331.1:n.716_717delinsAT
ENST00000645620.1:c.-222+47_-222+48delinsAT	ENSP00000493657.1:n.-222+47_-222+48delinsAT
ENST00000646777.1:n.526_527delinsAT
ENST00000647016.1:n.830_831delinsAT
ENST00000647152.1:c.-233_-232delinsAT	ENSP00000495893.1:n.-233_-232delinsAT
ENST00000647209.1:c.*366_*367delinsAT	ENSP00000495558.1:n.*366_*367delinsAT
ENST00000647346.1:n.1517_1518delinsAT
ENST00000299427.10:c.497_498delinsAT	ENSP00000299427.6:p.His166=
ENST00000428886.6:n.519_520delinsAT
ENST00000436873.6:c.450+47_450+48delinsAT	ENSP00000398136.2:n.450+47_450+48delinsAT
ENST00000524788.1:n.50_51delinsAT
ENST00000528571.5:c.*237_*238delinsAT	ENSP00000434647.1:n.*237_*238delinsAT
ENST00000533371.5:c.-233_-232delinsAT	ENSP00000437066.1:n.-233_-232delinsAT
ENST00000534644.5:n.482_483delinsAT
ENST00000611494.4:c.497_498delinsAT	ENSP00000484546.1:p.His166=
NM_000391.3:c.497_498delinsAT	NP_000382.3:p.His166=
NM_000391.4:c.497_498delinsAT MANE Select	NP_000382.3:p.His166=