Canonical Allele Identifier: CA2612256039

Gene: TPP1

Linked Data

• gnomAD v4: 11-6617316-GGGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617317_6617319del , CM000673.2:g.6617317_6617319del	GRCh38
NC_000011.9:g.6638548_6638550del , CM000673.1:g.6638548_6638550del	GRCh37
NC_000011.8:g.6595124_6595126del	NCBI36
NG_008653.1:g.7143_7145del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.376_378del	ENSP00000507321.1:p.Ala126del
ENST00000299427.12:c.490_492del MANE Select	ENSP00000299427.6:p.Ala164del
ENST00000428886.7:n.578_580del
ENST00000436873.7:c.294_296del
ENST00000524788.2:n.1502_1504del
ENST00000524903.2:n.1618_1620del
ENST00000528571.6:c.*230_*232del	ENSP00000434647.1:n.*230_*232del
ENST00000528807.2:n.146_148del
ENST00000530040.2:n.479+40_479+42del
ENST00000533371.6:c.-240_-238del	ENSP00000437066.1:n.-240_-238del
ENST00000534644.6:n.456+35_456+37del
ENST00000642892.1:c.-222+35_-222+37del	ENSP00000494165.1:n.-222+35_-222+37del
ENST00000643439.1:c.*230_*232del	ENSP00000495849.1:n.*230_*232del
ENST00000643479.1:n.519_521del
ENST00000643516.1:c.377_379del
ENST00000644151.1:n.1782_1784del
ENST00000644218.1:c.490_492del	ENSP00000493574.1:p.Ala164del
ENST00000644683.1:c.450+40_450+42del	ENSP00000494085.1:n.450+40_450+42del
ENST00000644810.1:c.230-166_230-164del	ENSP00000495895.1:n.230-166_230-164del
ENST00000644831.1:n.519_521del
ENST00000644933.1:c.-240_-238del	ENSP00000496133.1:n.-240_-238del
ENST00000645020.1:n.1518_1520del
ENST00000645285.1:c.-240_-238del	ENSP00000495058.1:n.-240_-238del
ENST00000645331.1:n.709_711del
ENST00000645620.1:c.-222+40_-222+42del	ENSP00000493657.1:n.-222+40_-222+42del
ENST00000646777.1:n.519_521del
ENST00000647016.1:n.823_825del
ENST00000647152.1:c.-240_-238del	ENSP00000495893.1:n.-240_-238del
ENST00000647209.1:c.*359_*361del	ENSP00000495558.1:n.*359_*361del
ENST00000647346.1:n.1510_1512del
ENST00000299427.10:c.490_492del	ENSP00000299427.6:p.Ala164del
ENST00000428886.6:n.512_514del
ENST00000436873.6:c.450+40_450+42del	ENSP00000398136.2:n.450+40_450+42del
ENST00000524788.1:n.43_45del
ENST00000528571.5:c.*230_*232del	ENSP00000434647.1:n.*230_*232del
ENST00000533371.5:c.-240_-238del	ENSP00000437066.1:n.-240_-238del
ENST00000534644.5:n.475_477del
ENST00000611494.4:c.490_492del	ENSP00000484546.1:p.Ala164del
NM_000391.3:c.490_492del	NP_000382.3:p.Ala164del
NM_000391.4:c.490_492del MANE Select	NP_000382.3:p.Ala164del