Canonical Allele Identifier: CA16041508
Gene: TPP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 370550
ClinVar RCV Id: RCV000410236
dbSNP Id: rs1057516579
MyVariant Identifiers: chr11:g.6635808dupG (hg19) chr11:g.6635807_6635808insG (hg19) chr11:g.6614577dupG (hg38) chr11:g.6614576_6614577insG (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6614579dup , CM000673.2:g.6614579dup GRCh38
NC_000011.9:g.6635810dup , CM000673.1:g.6635810dup GRCh37
NC_000011.8:g.6592386dup NCBI36
NG_008653.1:g.9885dup

Transcript Alleles

HGVS Amino-acid change
ENST00000682424.1:c.1547dup ENSP00000507321.1:p.Ala517SerfsTer?
ENST00000299427.12:c.1661dup MANE Select ENSP00000299427.6:p.Ala555SerfsTer?
ENST00000524611.2:n.700dup
ENST00000533371.6:c.932dup ENSP00000437066.1:p.Ala312SerfsTer?
ENST00000642892.1:c.932dup ENSP00000494165.1:p.Ala312SerfsTer?
ENST00000643342.1:c.734dup
ENST00000643439.1:c.*1401dup ENSP00000495849.1:n.*1401dup
ENST00000643479.1:n.1847dup
ENST00000643516.1:c.1170dup
ENST00000644218.1:c.1472dup ENSP00000493574.1:p.Ala492SerfsTer?
ENST00000644683.1:c.*1114dup ENSP00000494085.1:n.*1114dup
ENST00000644810.1:c.1382dup ENSP00000495895.1:p.Ala462SerfsTer?
ENST00000644831.1:n.1837dup
ENST00000644933.1:c.*527dup ENSP00000496133.1:n.*527dup
ENST00000645285.1:c.*527dup ENSP00000495058.1:n.*527dup
ENST00000645331.1:n.2866dup
ENST00000645620.1:c.932dup ENSP00000493657.1:p.Ala312SerfsTer?
ENST00000646691.1:n.1548dup
ENST00000646777.1:n.1994dup
ENST00000647016.1:n.2141dup
ENST00000647152.1:c.932dup ENSP00000495893.1:p.Ala312SerfsTer?
ENST00000647209.1:c.*1530dup ENSP00000495558.1:n.*1530dup
ENST00000647346.1:n.2681dup
ENST00000299427.10:c.1661dup ENSP00000299427.6:p.Ala555SerfsTer?
ENST00000533371.5:c.932dup ENSP00000437066.1:p.Ala312SerfsTer?
ENST00000611494.4:c.1660dup ENSP00000484546.1:p.Gln554ProfsTer11
NM_000391.3:c.1661dup NP_000382.3:p.Ala555SerfsTer?
NM_000391.4:c.1661dup MANE Select NP_000382.3:p.Ala555SerfsTer?
Search 100 bp 5'
Search 100 bp 3'