Canonical Allele Identifier: CA16609834
Gene: CENPJ HGNC NCBI
RNF17 HGNC NCBI

Linked Data

ClinVar Variation Id: 403711
ClinVar RCV Id: RCV000470349
dbSNP Id: rs1060499557
MyVariant Identifiers: chr13:g.25457393_25457396del (hg19) chr13:g.24883255_24883258del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.24883255_24883258del , CM000675.2:g.24883255_24883258del GRCh38
NC_000013.10:g.25457393_25457396del , CM000675.1:g.25457393_25457396del GRCh37
NC_000013.9:g.24355393_24355396del NCBI36
NG_009165.2:g.44690_44693del

Transcript Alleles

HGVS Amino-acid change
ENST00000381884.9:c.3936_3939del (CENPJ) MANE Select ENSP00000371308.4:p.His1313LysfsTer10
ENST00000545981.6:c.*676_*679del (CENPJ) ENSP00000441090.2:n.*676_*679del
ENST00000381884.8:c.3936_3939del (CENPJ) ENSP00000371308.4:p.His1313LysfsTer10
ENST00000545981.5:c.*677_*680del (CENPJ) ENSP00000441090.2:n.*677_*680del
ENST00000616936.4:c.*590_*593del (CENPJ) ENSP00000477511.1:n.*590_*593del
NM_018451.4:c.3936_3939del (CENPJ) NP_060921.3:p.His1313LysfsTer10
NR_047594.1:n.4248_4251del (CENPJ)
NR_047595.1:n.4046_4049del (CENPJ)
XM_011535156.1:c.*10+3960_*10+3963del (RNF17) XP_011533458.1:n.*10+3960_*10+3963del
XM_011535156.2:c.*10+3960_*10+3963del (RNF17) XP_011533458.1:n.*10+3960_*10+3963del
NM_018451.5:c.3936_3939del (CENPJ) MANE Select NP_060921.3:p.His1313LysfsTer10
NR_047594.2:n.4220_4223del (CENPJ)
NR_047595.2:n.4018_4021del (CENPJ)
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