Canonical Allele Identifier: CA8332491
Gene: FBXO39 HGNC NCBI

Linked Data

dbSNP Id: rs1567671067
ExAC: 17:6684013 CTGGCCAGGCAGGCCACCAATCTGAAGGTGAACTTCTTCTTTGAACGGATCATGAAGTACGAACGCTTGGCCCGAATCCTCTTGCAGGAGATCCCGATCAGG / C
gnomAD v2: 17-6684013-CTGGCCAGGCAGGCCACCAATCTGAAGGTGAACTTCTTCTTTGAACGGATCATGAAGTACGAACGCTTGGCCCGAATCCTCTTGCAGGAGATCCCGATCAGG-C
gnomAD v4: 17-6780694-CTGGCCAGGCAGGCCACCAATCTGAAGGTGAACTTCTTCTTTGAACGGATCATGAAGTACGAACGCTTGGCCCGAATCCTCTTGCAGGAGATCCCGATCAGG-C
MyVariant Identifiers: chr17:g.6684014_6684114del (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6780695_6780795del , CM000679.2:g.6780695_6780795del GRCh38
NC_000017.10:g.6684014_6684114del , CM000679.1:g.6684014_6684114del GRCh37
NC_000017.9:g.6624738_6624838del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000321535.5:c.827_927del MANE Select ENSP00000321386.4:p.Leu276GlnfsTer11
ENST00000321535.4:c.827_927del ENSP00000321386.4:p.Leu276GlnfsTer11
NM_153230.2:c.827_927del NP_694962.1:p.Leu276GlnfsTer11
XM_011523697.1:c.827_927del XP_011521999.1:p.Leu276GlnfsTer11
XR_243544.3:n.1005_1105del
NM_153230.3:c.827_927del MANE Select NP_694962.1:p.Leu276GlnfsTer11
Search 100 bp 5'
Search 100 bp 3'