Canonical Allele Identifier: CA2635734723
Gene: FBXO39 HGNC NCBI

Linked Data

gnomAD v4: 17-6780789-GATCAGGAGCATCA-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6780790_6780802del , CM000679.2:g.6780790_6780802del GRCh38
NC_000017.10:g.6684109_6684121del , CM000679.1:g.6684109_6684121del GRCh37
NC_000017.9:g.6624833_6624845del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000321535.5:c.922_934del MANE Select ENSP00000321386.4:p.Ile308ValfsTer2
ENST00000321535.4:c.922_934del ENSP00000321386.4:p.Ile308ValfsTer2
NM_153230.2:c.922_934del NP_694962.1:p.Ile308ValfsTer2
XM_011523697.1:c.922_934del XP_011521999.1:p.Ile308ValfsTer2
XR_243544.3:n.1100_1112del
NM_153230.3:c.922_934del MANE Select NP_694962.1:p.Ile308ValfsTer2
Search 100 bp 5'
Search 100 bp 3'