Canonical Allele Identifier: CA2838273999

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616691dup , CM000673.2:g.6616691dup	GRCh38
NC_000011.9:g.6637922dup , CM000673.1:g.6637922dup	GRCh37
NC_000011.8:g.6594498dup	NCBI36
NG_008653.1:g.7772dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.743dup	ENSP00000507321.1:p.Asn248LysfsTer9
ENST00000299427.12:c.857dup MANE Select	ENSP00000299427.6:p.Asn286LysfsTer9
ENST00000436873.7:c.312+611dup
ENST00000524788.2:n.2016dup
ENST00000524903.2:n.2132dup
ENST00000528807.2:n.513dup
ENST00000530040.2:n.480-187dup
ENST00000533371.6:c.128dup	ENSP00000437066.1:p.Asn43LysfsTer9
ENST00000642892.1:c.128dup	ENSP00000494165.1:p.Asn43LysfsTer9
ENST00000643439.1:c.*597dup	ENSP00000495849.1:n.*597dup
ENST00000643479.1:n.886dup
ENST00000643516.1:c.396-187dup
ENST00000644151.1:n.2296dup
ENST00000644218.1:c.857dup	ENSP00000493574.1:p.Asn286LysfsTer9
ENST00000644683.1:c.*310dup	ENSP00000494085.1:n.*310dup
ENST00000644810.1:c.578dup	ENSP00000495895.1:p.Asn193LysfsTer9
ENST00000644831.1:n.1033dup
ENST00000644933.1:c.128dup	ENSP00000496133.1:p.Asn43LysfsTer9
ENST00000645020.1:n.2147dup
ENST00000645285.1:c.128dup	ENSP00000495058.1:p.Asn43LysfsTer9
ENST00000645331.1:n.1223dup
ENST00000645620.1:c.128dup	ENSP00000493657.1:p.Asn43LysfsTer9
ENST00000646777.1:n.1033dup
ENST00000647016.1:n.1337dup
ENST00000647152.1:c.128dup	ENSP00000495893.1:p.Asn43LysfsTer9
ENST00000647209.1:c.*726dup	ENSP00000495558.1:n.*726dup
ENST00000647346.1:n.1877dup
ENST00000299427.10:c.857dup	ENSP00000299427.6:p.Asn286LysfsTer9
ENST00000436873.6:c.451-187dup	ENSP00000398136.2:n.451-187dup
ENST00000528807.1:n.407dup
ENST00000533371.5:c.128dup	ENSP00000437066.1:p.Asn43LysfsTer9
ENST00000611494.4:c.857dup	ENSP00000484546.1:p.Asn286LysfsTer9
NM_000391.3:c.857dup	NP_000382.3:p.Asn286LysfsTer9
NM_000391.4:c.857dup MANE Select	NP_000382.3:p.Asn286LysfsTer9