Canonical Allele Identifier: CA1950234646

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615490_6615491delinsAT , CM000673.2:g.6615490_6615491delinsAT	GRCh38
NC_000011.9:g.6636721_6636722delinsAT , CM000673.1:g.6636721_6636722delinsAT	GRCh37
NC_000011.8:g.6593297_6593298delinsAT	NCBI36
NG_008653.1:g.8971_8972delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1103_1104delinsAT	ENSP00000507321.1:p.Tyr368=
ENST00000299427.12:c.1217_1218delinsAT MANE Select	ENSP00000299427.6:p.Tyr406=
ENST00000436873.7:c.454_455delinsAT
ENST00000524924.2:n.337_338delinsAT
ENST00000533371.6:c.488_489delinsAT	ENSP00000437066.1:p.Tyr163=
ENST00000642892.1:c.488_489delinsAT	ENSP00000494165.1:p.Tyr163=
ENST00000643342.1:c.290_291delinsAT
ENST00000643439.1:c.*957_*958delinsAT	ENSP00000495849.1:n.*957_*958delinsAT
ENST00000643479.1:n.1403_1404delinsAT
ENST00000643516.1:c.726_727delinsAT
ENST00000644218.1:c.1028_1029delinsAT	ENSP00000493574.1:p.Tyr343=
ENST00000644683.1:c.*670_*671delinsAT	ENSP00000494085.1:n.*670_*671delinsAT
ENST00000644810.1:c.938_939delinsAT	ENSP00000495895.1:p.Tyr313=
ENST00000644831.1:n.1393_1394delinsAT
ENST00000644933.1:c.*83_*84delinsAT	ENSP00000496133.1:n.*83_*84delinsAT
ENST00000645285.1:c.*83_*84delinsAT	ENSP00000495058.1:n.*83_*84delinsAT
ENST00000645331.1:n.2422_2423delinsAT
ENST00000645620.1:c.488_489delinsAT	ENSP00000493657.1:p.Tyr163=
ENST00000646691.1:n.992_993delinsAT
ENST00000646777.1:n.1550_1551delinsAT
ENST00000647016.1:n.1697_1698delinsAT
ENST00000647152.1:c.488_489delinsAT	ENSP00000495893.1:p.Tyr163=
ENST00000647209.1:c.*1086_*1087delinsAT	ENSP00000495558.1:n.*1086_*1087delinsAT
ENST00000647346.1:n.2237_2238delinsAT
ENST00000299427.10:c.1217_1218delinsAT	ENSP00000299427.6:p.Tyr406=
ENST00000524924.1:n.172_173delinsAT
ENST00000532191.1:n.270_271delinsAT
ENST00000533371.5:c.488_489delinsAT	ENSP00000437066.1:p.Tyr163=
ENST00000611494.4:c.1217_1218delinsAT	ENSP00000484546.1:p.Tyr406=
NM_000391.3:c.1217_1218delinsAT	NP_000382.3:p.Tyr406=
NM_000391.4:c.1217_1218delinsAT MANE Select	NP_000382.3:p.Tyr406=