Canonical Allele Identifier: CA597439709

Gene: TPP1

Linked Data

• dbSNP Id: rs1422121082
• gnomAD v2: 11-6638286-AG-A
• gnomAD v4: 11-6617055-AG-A
• MyVariant Identifiers: chr11:g.6638287del (hg19) ; chr11:g.6617056del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617060del , CM000673.2:g.6617060del	GRCh38
NC_000011.9:g.6638291del , CM000673.1:g.6638291del	GRCh37
NC_000011.8:g.6594867del	NCBI36
NG_008653.1:g.7406del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.492del	ENSP00000507321.1:p.Ser165LeufsTer2
ENST00000299427.12:c.606del MANE Select	ENSP00000299427.6:p.Ser203LeufsTer2
ENST00000436873.7:c.312+245del
ENST00000524788.2:n.1765del
ENST00000524903.2:n.1881del
ENST00000528807.2:n.262del
ENST00000530040.2:n.479+303del
ENST00000533371.6:c.-124del	ENSP00000437066.1:n.-124del
ENST00000534644.6:n.554del
ENST00000642892.1:c.-124del	ENSP00000494165.1:n.-124del
ENST00000643439.1:c.*346del	ENSP00000495849.1:n.*346del
ENST00000643479.1:n.635del
ENST00000643516.1:c.395+245del
ENST00000644151.1:n.2045del
ENST00000644218.1:c.606del	ENSP00000493574.1:p.Ser203LeufsTer2
ENST00000644683.1:c.*59del	ENSP00000494085.1:n.*59del
ENST00000644810.1:c.327del	ENSP00000495895.1:p.Ser110LeufsTer2
ENST00000644831.1:n.782del
ENST00000644933.1:c.-124del	ENSP00000496133.1:n.-124del
ENST00000645020.1:n.1781del
ENST00000645285.1:c.-124del	ENSP00000495058.1:n.-124del
ENST00000645331.1:n.972del
ENST00000645620.1:c.-124del	ENSP00000493657.1:n.-124del
ENST00000646777.1:n.782del
ENST00000647016.1:n.1086del
ENST00000647152.1:c.-124del	ENSP00000495893.1:n.-124del
ENST00000647209.1:c.*475del	ENSP00000495558.1:n.*475del
ENST00000647346.1:n.1626del
ENST00000299427.10:c.606del	ENSP00000299427.6:p.Ser203LeufsTer2
ENST00000428886.6:n.775del
ENST00000436873.6:c.450+303del	ENSP00000398136.2:n.450+303del
ENST00000524788.1:n.306del
ENST00000528571.5:c.*346del	ENSP00000434647.1:n.*346del
ENST00000528807.1:n.156del
ENST00000533371.5:c.-124del	ENSP00000437066.1:n.-124del
ENST00000534644.5:n.591del
ENST00000611494.4:c.606del	ENSP00000484546.1:p.Ser203LeufsTer2
NM_000391.3:c.606del	NP_000382.3:p.Ser203LeufsTer2
NM_000391.4:c.606del MANE Select	NP_000382.3:p.Ser203LeufsTer2