Canonical Allele Identifier: CA2635734640
Gene: FBXO39 HGNC NCBI

Linked Data

gnomAD v4: 17-6780747-GA-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6780749del , CM000679.2:g.6780749del GRCh38
NC_000017.10:g.6684068del , CM000679.1:g.6684068del GRCh37
NC_000017.9:g.6624792del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000321535.5:c.881del MANE Select ENSP00000321386.4:p.Lys294SerfsTer20
ENST00000321535.4:c.881del ENSP00000321386.4:p.Lys294SerfsTer20
NM_153230.2:c.881del NP_694962.1:p.Lys294SerfsTer20
XM_011523697.1:c.881del XP_011521999.1:p.Lys294SerfsTer20
XR_243544.3:n.1059del
NM_153230.3:c.881del MANE Select NP_694962.1:p.Lys294SerfsTer20
Search 100 bp 5'
Search 100 bp 3'