Canonical Allele Identifier: CA2790314338

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617193_6617194del , CM000673.2:g.6617193_6617194del	GRCh38
NC_000011.9:g.6638424_6638425del , CM000673.1:g.6638424_6638425del	GRCh37
NC_000011.8:g.6595000_6595001del	NCBI36
NG_008653.1:g.7269_7270del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.395-40_395-39del	ENSP00000507321.1:n.395-40_395-39del
ENST00000299427.12:c.509-40_509-39del MANE Select	ENSP00000299427.6:n.509-40_509-39del
ENST00000428886.7:n.704_705del
ENST00000436873.7:c.312+108_312+109del
ENST00000524788.2:n.1628_1629del
ENST00000524903.2:n.1744_1745del
ENST00000528807.2:n.165-40_165-39del
ENST00000530040.2:n.479+166_479+167del
ENST00000533371.6:c.-221-40_-221-39del	ENSP00000437066.1:n.-221-40_-221-39del
ENST00000534644.6:n.457-40_457-39del
ENST00000642892.1:c.-221-40_-221-39del	ENSP00000494165.1:n.-221-40_-221-39del
ENST00000643439.1:c.*249-40_*249-39del	ENSP00000495849.1:n.*249-40_*249-39del
ENST00000643479.1:n.538-40_538-39del
ENST00000643516.1:c.395+108_395+109del
ENST00000644151.1:n.1908_1909del
ENST00000644218.1:c.509-40_509-39del	ENSP00000493574.1:n.509-40_509-39del
ENST00000644683.1:c.451-40_451-39del	ENSP00000494085.1:n.451-40_451-39del
ENST00000644810.1:c.230-40_230-39del	ENSP00000495895.1:n.230-40_230-39del
ENST00000644831.1:n.645_646del
ENST00000644933.1:c.-221-40_-221-39del	ENSP00000496133.1:n.-221-40_-221-39del
ENST00000645020.1:n.1644_1645del
ENST00000645285.1:c.-221-40_-221-39del	ENSP00000495058.1:n.-221-40_-221-39del
ENST00000645331.1:n.835_836del
ENST00000645620.1:c.-221-40_-221-39del	ENSP00000493657.1:n.-221-40_-221-39del
ENST00000646777.1:n.645_646del
ENST00000647016.1:n.949_950del
ENST00000647152.1:c.-221-40_-221-39del	ENSP00000495893.1:n.-221-40_-221-39del
ENST00000647209.1:c.*378-40_*378-39del	ENSP00000495558.1:n.*378-40_*378-39del
ENST00000647346.1:n.1529-40_1529-39del
ENST00000299427.10:c.509-40_509-39del	ENSP00000299427.6:n.509-40_509-39del
ENST00000428886.6:n.638_639del
ENST00000436873.6:c.450+166_450+167del	ENSP00000398136.2:n.450+166_450+167del
ENST00000524788.1:n.169_170del
ENST00000528571.5:c.*249-40_*249-39del	ENSP00000434647.1:n.*249-40_*249-39del
ENST00000528807.1:n.19_20del
ENST00000533371.5:c.-221-40_-221-39del	ENSP00000437066.1:n.-221-40_-221-39del
ENST00000534644.5:n.494-40_494-39del
ENST00000611494.4:c.509-40_509-39del	ENSP00000484546.1:n.509-40_509-39del
NM_000391.3:c.509-40_509-39del	NP_000382.3:n.509-40_509-39del
NM_000391.4:c.509-40_509-39del MANE Select	NP_000382.3:n.509-40_509-39del