Canonical Allele Identifier: CA1950214907

Gene: TPP1

Linked Data

• dbSNP Id: rs1855603135

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617367_6617368insC , CM000673.2:g.6617367_6617368insC	GRCh38
NC_000011.9:g.6638598_6638599insC , CM000673.1:g.6638598_6638599insC	GRCh37
NC_000011.8:g.6595174_6595175insC	NCBI36
NG_008653.1:g.7094_7095insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.327_328insG	ENSP00000507321.1:p.Thr110AspfsTer?
ENST00000299427.12:c.441_442insG MANE Select	ENSP00000299427.6:p.Thr148AspfsTer?
ENST00000428886.7:n.529_530insG
ENST00000436873.7:c.245_246insG
ENST00000524788.2:n.1453_1454insG
ENST00000524903.2:n.1569_1570insG
ENST00000528571.6:c.*181_*182insG	ENSP00000434647.1:n.*181_*182insG
ENST00000528807.2:n.97_98insG
ENST00000530040.2:n.470_471insG
ENST00000533371.6:c.-289_-288insG	ENSP00000437066.1:n.-289_-288insG
ENST00000534644.6:n.442_443insG
ENST00000642892.1:c.-236_-235insG	ENSP00000494165.1:n.-236_-235insG
ENST00000643439.1:c.*181_*182insG	ENSP00000495849.1:n.*181_*182insG
ENST00000643479.1:n.470_471insG
ENST00000643516.1:c.328_329insG
ENST00000644151.1:n.1733_1734insG
ENST00000644218.1:c.441_442insG	ENSP00000493574.1:p.Thr148AspfsTer?
ENST00000644683.1:c.441_442insG	ENSP00000494085.1:p.Thr148AspfsTer?
ENST00000644810.1:c.230-215_230-214insG	ENSP00000495895.1:n.230-215_230-214insG
ENST00000644831.1:n.470_471insG
ENST00000644933.1:c.-289_-288insG	ENSP00000496133.1:n.-289_-288insG
ENST00000645020.1:n.1469_1470insG
ENST00000645285.1:c.-289_-288insG	ENSP00000495058.1:n.-289_-288insG
ENST00000645331.1:n.660_661insG
ENST00000645620.1:c.-231_-230insG	ENSP00000493657.1:n.-231_-230insG
ENST00000646777.1:n.470_471insG
ENST00000647016.1:n.774_775insG
ENST00000647152.1:c.-289_-288insG	ENSP00000495893.1:n.-289_-288insG
ENST00000647209.1:c.*310_*311insG	ENSP00000495558.1:n.*310_*311insG
ENST00000647346.1:n.1461_1462insG
ENST00000299427.10:c.441_442insG	ENSP00000299427.6:p.Thr148AspfsTer?
ENST00000428886.6:n.463_464insG
ENST00000436873.6:c.441_442insG	ENSP00000398136.2:p.Thr148AspfsTer?
ENST00000528571.5:c.*181_*182insG	ENSP00000434647.1:n.*181_*182insG
ENST00000533371.5:c.-289_-288insG	ENSP00000437066.1:n.-289_-288insG
ENST00000534644.5:n.426_427insG
ENST00000611494.4:c.441_442insG	ENSP00000484546.1:p.Thr148AspfsTer?
NM_000391.3:c.441_442insG	NP_000382.3:p.Thr148AspfsTer?
NM_000391.4:c.441_442insG MANE Select	NP_000382.3:p.Thr148AspfsTer?