Canonical Allele Identifier: CA2574741363

Gene: TPP1

Linked Data

• gnomAD v4: 11-6617302-AAAGTCCAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617304_6617311del , CM000673.2:g.6617304_6617311del	GRCh38
NC_000011.9:g.6638535_6638542del , CM000673.1:g.6638535_6638542del	GRCh37
NC_000011.8:g.6595111_6595118del	NCBI36
NG_008653.1:g.7152_7159del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.385_392del	ENSP00000507321.1:p.Val129CysfsTer18
ENST00000299427.12:c.499_506del MANE Select	ENSP00000299427.6:p.Val167CysfsTer18
ENST00000428886.7:n.587_594del
ENST00000436873.7:c.303_310del
ENST00000524788.2:n.1511_1518del
ENST00000524903.2:n.1627_1634del
ENST00000528571.6:c.*239_*246del	ENSP00000434647.1:n.*239_*246del
ENST00000528807.2:n.155_162del
ENST00000530040.2:n.479+49_479+56del
ENST00000533371.6:c.-231_-224del	ENSP00000437066.1:n.-231_-224del
ENST00000534644.6:n.456+44_456+51del
ENST00000642892.1:c.-222+44_-222+51del	ENSP00000494165.1:n.-222+44_-222+51del
ENST00000643439.1:c.*239_*246del	ENSP00000495849.1:n.*239_*246del
ENST00000643479.1:n.528_535del
ENST00000643516.1:c.386_393del
ENST00000644151.1:n.1791_1798del
ENST00000644218.1:c.499_506del	ENSP00000493574.1:p.Val167CysfsTer18
ENST00000644683.1:c.450+49_450+56del	ENSP00000494085.1:n.450+49_450+56del
ENST00000644810.1:c.230-157_230-150del	ENSP00000495895.1:n.230-157_230-150del
ENST00000644831.1:n.528_535del
ENST00000644933.1:c.-231_-224del	ENSP00000496133.1:n.-231_-224del
ENST00000645020.1:n.1527_1534del
ENST00000645285.1:c.-231_-224del	ENSP00000495058.1:n.-231_-224del
ENST00000645331.1:n.718_725del
ENST00000645620.1:c.-222+49_-222+56del	ENSP00000493657.1:n.-222+49_-222+56del
ENST00000646777.1:n.528_535del
ENST00000647016.1:n.832_839del
ENST00000647152.1:c.-231_-224del	ENSP00000495893.1:n.-231_-224del
ENST00000647209.1:c.*368_*375del	ENSP00000495558.1:n.*368_*375del
ENST00000647346.1:n.1519_1526del
ENST00000299427.10:c.499_506del	ENSP00000299427.6:p.Val167CysfsTer18
ENST00000428886.6:n.521_528del
ENST00000436873.6:c.450+49_450+56del	ENSP00000398136.2:n.450+49_450+56del
ENST00000524788.1:n.52_59del
ENST00000528571.5:c.*239_*246del	ENSP00000434647.1:n.*239_*246del
ENST00000533371.5:c.-231_-224del	ENSP00000437066.1:n.-231_-224del
ENST00000534644.5:n.484_491del
ENST00000611494.4:c.499_506del	ENSP00000484546.1:p.Val167CysfsTer18
NM_000391.3:c.499_506del	NP_000382.3:p.Val167CysfsTer18
NM_000391.4:c.499_506del MANE Select	NP_000382.3:p.Val167CysfsTer18