Canonical Allele Identifier: CA1950233919
Gene: TPP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6615202_6615204delinsCTG , CM000673.2:g.6615202_6615204delinsCTG GRCh38
NC_000011.9:g.6636433_6636435delinsCTG , CM000673.1:g.6636433_6636435delinsCTG GRCh37
NC_000011.8:g.6593009_6593011delinsCTG NCBI36
NG_008653.1:g.9258_9260delinsCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.1278_1280delinsCAG ENSP00000507321.1:p.Asn426=
ENST00000299427.12:c.1392_1394delinsCAG MANE Select ENSP00000299427.6:p.Asn464=
ENST00000524611.2:n.252_254delinsCAG
ENST00000524924.2:n.512_514delinsCAG
ENST00000533371.6:c.663_665delinsCAG ENSP00000437066.1:p.Asn221=
ENST00000642892.1:c.663_665delinsCAG ENSP00000494165.1:p.Asn221=
ENST00000643342.1:c.465_467delinsCAG
ENST00000643439.1:c.*1132_*1134delinsCAG ENSP00000495849.1:n.*1132_*1134delinsCAG
ENST00000643479.1:n.1578_1580delinsCAG
ENST00000643516.1:c.901_903delinsCAG
ENST00000644218.1:c.1203_1205delinsCAG ENSP00000493574.1:p.Asn401=
ENST00000644683.1:c.*845_*847delinsCAG ENSP00000494085.1:n.*845_*847delinsCAG
ENST00000644810.1:c.1113_1115delinsCAG ENSP00000495895.1:p.Asn371=
ENST00000644831.1:n.1568_1570delinsCAG
ENST00000644933.1:c.*258_*260delinsCAG ENSP00000496133.1:n.*258_*260delinsCAG
ENST00000645285.1:c.*258_*260delinsCAG ENSP00000495058.1:n.*258_*260delinsCAG
ENST00000645331.1:n.2597_2599delinsCAG
ENST00000645620.1:c.663_665delinsCAG ENSP00000493657.1:p.Asn221=
ENST00000646691.1:n.1279_1281delinsCAG
ENST00000646777.1:n.1725_1727delinsCAG
ENST00000647016.1:n.1872_1874delinsCAG
ENST00000647152.1:c.663_665delinsCAG ENSP00000495893.1:p.Asn221=
ENST00000647209.1:c.*1261_*1263delinsCAG ENSP00000495558.1:n.*1261_*1263delinsCAG
ENST00000647346.1:n.2412_2414delinsCAG
ENST00000299427.10:c.1392_1394delinsCAG ENSP00000299427.6:p.Asn464=
ENST00000524611.1:n.270_272delinsCAG
ENST00000533371.5:c.663_665delinsCAG ENSP00000437066.1:p.Asn221=
ENST00000611494.4:c.1392_1394delinsCAG ENSP00000484546.1:p.Asn464=
NM_000391.3:c.1392_1394delinsCAG NP_000382.3:p.Asn464=
NM_000391.4:c.1392_1394delinsCAG MANE Select NP_000382.3:p.Asn464=