Canonical Allele Identifier: CA597439891

Gene: TPP1

Linked Data

• dbSNP Id: rs1564854442
• gnomAD v2: 11-6636721-AT-A
• gnomAD v4: 11-6615490-AT-A
• MyVariant Identifiers: chr11:g.6636722del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615491del , CM000673.2:g.6615491del	GRCh38
NC_000011.9:g.6636722del , CM000673.1:g.6636722del	GRCh37
NC_000011.8:g.6593298del	NCBI36
NG_008653.1:g.8971del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1103del	ENSP00000507321.1:p.Tyr368LeufsTer21
ENST00000299427.12:c.1217del MANE Select	ENSP00000299427.6:p.Tyr406LeufsTer21
ENST00000436873.7:c.454del
ENST00000524924.2:n.337del
ENST00000533371.6:c.488del	ENSP00000437066.1:p.Tyr163LeufsTer21
ENST00000642892.1:c.488del	ENSP00000494165.1:p.Tyr163LeufsTer21
ENST00000643342.1:c.290del
ENST00000643439.1:c.*957del	ENSP00000495849.1:n.*957del
ENST00000643479.1:n.1403del
ENST00000643516.1:c.726del
ENST00000644218.1:c.1028del	ENSP00000493574.1:p.Tyr343LeufsTer21
ENST00000644683.1:c.*670del	ENSP00000494085.1:n.*670del
ENST00000644810.1:c.938del	ENSP00000495895.1:p.Tyr313LeufsTer21
ENST00000644831.1:n.1393del
ENST00000644933.1:c.*83del	ENSP00000496133.1:n.*83del
ENST00000645285.1:c.*83del	ENSP00000495058.1:n.*83del
ENST00000645331.1:n.2422del
ENST00000645620.1:c.488del	ENSP00000493657.1:p.Tyr163LeufsTer21
ENST00000646691.1:n.992del
ENST00000646777.1:n.1550del
ENST00000647016.1:n.1697del
ENST00000647152.1:c.488del	ENSP00000495893.1:p.Tyr163LeufsTer21
ENST00000647209.1:c.*1086del	ENSP00000495558.1:n.*1086del
ENST00000647346.1:n.2237del
ENST00000299427.10:c.1217del	ENSP00000299427.6:p.Tyr406LeufsTer21
ENST00000524924.1:n.172del
ENST00000532191.1:n.270del
ENST00000533371.5:c.488del	ENSP00000437066.1:p.Tyr163LeufsTer21
ENST00000611494.4:c.1217del	ENSP00000484546.1:p.Tyr406LeufsTer21
NM_000391.3:c.1217del	NP_000382.3:p.Tyr406LeufsTer21
NM_000391.4:c.1217del MANE Select	NP_000382.3:p.Tyr406LeufsTer21