Canonical Allele Identifier: CA2612257253

Gene: TPP1

Linked Data

• gnomAD v4: 11-6615468-T-TACTGAA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615468_6615469insACTGAA , CM000673.2:g.6615468_6615469insACTGAA	GRCh38
NC_000011.9:g.6636699_6636700insACTGAA , CM000673.1:g.6636699_6636700insACTGAA	GRCh37
NC_000011.8:g.6593275_6593276insACTGAA	NCBI36
NG_008653.1:g.8993_8994insTTCAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1125_1126insTTCAGT	ENSP00000507321.1:p.Ser375_Asn376insPheSer
ENST00000299427.12:c.1239_1240insTTCAGT MANE Select	ENSP00000299427.6:p.Ser413_Asn414insPheSer
ENST00000436873.7:c.476_477insTTCAGT
ENST00000524924.2:n.359_360insTTCAGT
ENST00000533371.6:c.510_511insTTCAGT	ENSP00000437066.1:p.Ser170_Asn171insPheSer
ENST00000642892.1:c.510_511insTTCAGT	ENSP00000494165.1:p.Ser170_Asn171insPheSer
ENST00000643342.1:c.312_313insTTCAGT
ENST00000643439.1:c.*979_*980insTTCAGT	ENSP00000495849.1:n.*979_*980insTTCAGT
ENST00000643479.1:n.1425_1426insTTCAGT
ENST00000643516.1:c.748_749insTTCAGT
ENST00000644218.1:c.1050_1051insTTCAGT	ENSP00000493574.1:p.Ser350_Asn351insPheSer
ENST00000644683.1:c.*692_*693insTTCAGT	ENSP00000494085.1:n.*692_*693insTTCAGT
ENST00000644810.1:c.960_961insTTCAGT	ENSP00000495895.1:p.Ser320_Asn321insPheSer
ENST00000644831.1:n.1415_1416insTTCAGT
ENST00000644933.1:c.*105_*106insTTCAGT	ENSP00000496133.1:n.*105_*106insTTCAGT
ENST00000645285.1:c.*105_*106insTTCAGT	ENSP00000495058.1:n.*105_*106insTTCAGT
ENST00000645331.1:n.2444_2445insTTCAGT
ENST00000645620.1:c.510_511insTTCAGT	ENSP00000493657.1:p.Ser170_Asn171insPheSer
ENST00000646691.1:n.1014_1015insTTCAGT
ENST00000646777.1:n.1572_1573insTTCAGT
ENST00000647016.1:n.1719_1720insTTCAGT
ENST00000647152.1:c.510_511insTTCAGT	ENSP00000495893.1:p.Ser170_Asn171insPheSer
ENST00000647209.1:c.*1108_*1109insTTCAGT	ENSP00000495558.1:n.*1108_*1109insTTCAGT
ENST00000647346.1:n.2259_2260insTTCAGT
ENST00000299427.10:c.1239_1240insTTCAGT	ENSP00000299427.6:p.Ser413_Asn414insPheSer
ENST00000524611.1:n.5_6insTTCAGT
ENST00000524924.1:n.194_195insTTCAGT
ENST00000532191.1:n.292_293insTTCAGT
ENST00000533371.5:c.510_511insTTCAGT	ENSP00000437066.1:p.Ser170_Asn171insPheSer
ENST00000611494.4:c.1239_1240insTTCAGT	ENSP00000484546.1:p.Ser413_Asn414insPheSer
NM_000391.3:c.1239_1240insTTCAGT	NP_000382.3:p.Ser413_Asn414insPheSer
NM_000391.4:c.1239_1240insTTCAGT MANE Select	NP_000382.3:p.Ser413_Asn414insPheSer