Canonical Allele Identifier: CA1950237268

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616746_6616747delinsGC , CM000673.2:g.6616746_6616747delinsGC	GRCh38
NC_000011.9:g.6637977_6637978delinsGC , CM000673.1:g.6637977_6637978delinsGC	GRCh37
NC_000011.8:g.6594553_6594554delinsGC	NCBI36
NG_008653.1:g.7715_7716delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.686_687delinsGC	ENSP00000507321.1:p.Gly229=
ENST00000299427.12:c.800_801delinsGC MANE Select	ENSP00000299427.6:p.Gly267=
ENST00000436873.7:c.312+554_312+555delinsGC
ENST00000524788.2:n.1959_1960delinsGC
ENST00000524903.2:n.2075_2076delinsGC
ENST00000528807.2:n.456_457delinsGC
ENST00000530040.2:n.480-244_480-243delinsGC
ENST00000533371.6:c.71_72delinsGC	ENSP00000437066.1:p.Gly24=
ENST00000642892.1:c.71_72delinsGC	ENSP00000494165.1:p.Gly24=
ENST00000643439.1:c.*540_*541delinsGC	ENSP00000495849.1:n.*540_*541delinsGC
ENST00000643479.1:n.829_830delinsGC
ENST00000643516.1:c.396-244_396-243delinsGC
ENST00000644151.1:n.2239_2240delinsGC
ENST00000644218.1:c.800_801delinsGC	ENSP00000493574.1:p.Gly267=
ENST00000644683.1:c.*253_*254delinsGC	ENSP00000494085.1:n.*253_*254delinsGC
ENST00000644810.1:c.521_522delinsGC	ENSP00000495895.1:p.Gly174=
ENST00000644831.1:n.976_977delinsGC
ENST00000644933.1:c.71_72delinsGC	ENSP00000496133.1:p.Gly24=
ENST00000645020.1:n.2090_2091delinsGC
ENST00000645285.1:c.71_72delinsGC	ENSP00000495058.1:p.Gly24=
ENST00000645331.1:n.1166_1167delinsGC
ENST00000645620.1:c.71_72delinsGC	ENSP00000493657.1:p.Gly24=
ENST00000646777.1:n.976_977delinsGC
ENST00000647016.1:n.1280_1281delinsGC
ENST00000647152.1:c.71_72delinsGC	ENSP00000495893.1:p.Gly24=
ENST00000647209.1:c.*669_*670delinsGC	ENSP00000495558.1:n.*669_*670delinsGC
ENST00000647346.1:n.1820_1821delinsGC
ENST00000299427.10:c.800_801delinsGC	ENSP00000299427.6:p.Gly267=
ENST00000436873.6:c.451-244_451-243delinsGC	ENSP00000398136.2:n.451-244_451-243delinsGC
ENST00000524788.1:n.500_501delinsGC
ENST00000528807.1:n.350_351delinsGC
ENST00000533371.5:c.71_72delinsGC	ENSP00000437066.1:p.Gly24=
ENST00000611494.4:c.800_801delinsGC	ENSP00000484546.1:p.Gly267=
NM_000391.3:c.800_801delinsGC	NP_000382.3:p.Gly267=
NM_000391.4:c.800_801delinsGC MANE Select	NP_000382.3:p.Gly267=