Canonical Allele Identifier: CA1950215289

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617694_6617695delinsCA , CM000673.2:g.6617694_6617695delinsCA	GRCh38
NC_000011.9:g.6638925_6638926delinsCA , CM000673.1:g.6638925_6638926delinsCA	GRCh37
NC_000011.8:g.6595501_6595502delinsCA	NCBI36
NG_008653.1:g.6767_6768delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.197_198delinsTG	ENSP00000507321.1:p.Leu66=
ENST00000299427.12:c.311_312delinsTG MANE Select	ENSP00000299427.6:p.Leu104=
ENST00000428886.7:n.399_400delinsTG
ENST00000436873.7:c.115_116delinsTG
ENST00000524788.2:n.1323_1324delinsTG
ENST00000524903.2:n.1439_1440delinsTG
ENST00000528571.6:c.*51_*52delinsTG	ENSP00000434647.1:n.*51_*52delinsTG
ENST00000530040.2:n.340_341delinsTG
ENST00000533371.6:c.-419_-418delinsTG	ENSP00000437066.1:n.-419_-418delinsTG
ENST00000534644.6:n.312_313delinsTG
ENST00000642892.1:c.-366_-365delinsTG	ENSP00000494165.1:n.-366_-365delinsTG
ENST00000643439.1:c.*51_*52delinsTG	ENSP00000495849.1:n.*51_*52delinsTG
ENST00000643479.1:n.340_341delinsTG
ENST00000643516.1:c.198_199delinsTG
ENST00000644151.1:n.1603_1604delinsTG
ENST00000644218.1:c.311_312delinsTG	ENSP00000493574.1:p.Leu104=
ENST00000644683.1:c.311_312delinsTG	ENSP00000494085.1:p.Leu104=
ENST00000644810.1:c.230-542_230-541delinsTG	ENSP00000495895.1:n.230-542_230-541delinsTG
ENST00000644831.1:n.340_341delinsTG
ENST00000644933.1:c.-419_-418delinsTG	ENSP00000496133.1:n.-419_-418delinsTG
ENST00000645020.1:n.1339_1340delinsTG
ENST00000645285.1:c.-419_-418delinsTG	ENSP00000495058.1:n.-419_-418delinsTG
ENST00000645331.1:n.333_334delinsTG
ENST00000645620.1:c.-361_-360delinsTG	ENSP00000493657.1:n.-361_-360delinsTG
ENST00000646777.1:n.340_341delinsTG
ENST00000647016.1:n.644_645delinsTG
ENST00000647152.1:c.-419_-418delinsTG	ENSP00000495893.1:n.-419_-418delinsTG
ENST00000647209.1:c.*180_*181delinsTG	ENSP00000495558.1:n.*180_*181delinsTG
ENST00000647346.1:n.1331_1332delinsTG
ENST00000299427.10:c.311_312delinsTG	ENSP00000299427.6:p.Leu104=
ENST00000428886.6:n.333_334delinsTG
ENST00000436873.6:c.311_312delinsTG	ENSP00000398136.2:p.Leu104=
ENST00000528571.5:c.*51_*52delinsTG	ENSP00000434647.1:n.*51_*52delinsTG
ENST00000530040.1:n.423_424delinsTG
ENST00000533371.5:c.-419_-418delinsTG	ENSP00000437066.1:n.-419_-418delinsTG
ENST00000534644.5:n.296_297delinsTG
ENST00000611494.4:c.311_312delinsTG	ENSP00000484546.1:p.Leu104=
NM_000391.3:c.311_312delinsTG	NP_000382.3:p.Leu104=
NM_000391.4:c.311_312delinsTG MANE Select	NP_000382.3:p.Leu104=