Canonical Allele Identifier: CA624682698
Gene: FBXO39 HGNC NCBI

Linked Data

dbSNP Id: rs1385416107
gnomAD v2: 17-6684178-GA-G
gnomAD v4: 17-6780859-GA-G
MyVariant Identifiers: chr17:g.6684179del (hg19) chr17:g.6780860del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6780860del , CM000679.2:g.6780860del GRCh38
NC_000017.10:g.6684179del , CM000679.1:g.6684179del GRCh37
NC_000017.9:g.6624903del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000321535.5:c.992del MANE Select ENSP00000321386.4:p.Asp331ValfsTer13
ENST00000321535.4:c.992del ENSP00000321386.4:p.Asp331ValfsTer13
NM_153230.2:c.992del NP_694962.1:p.Asp331ValfsTer13
XM_011523697.1:c.992del XP_011521999.1:p.Asp331ValfsTer13
XR_243544.3:n.1170del
NM_153230.3:c.992del MANE Select NP_694962.1:p.Asp331ValfsTer13
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