Canonical Allele Identifier: CA8332528
Gene: FBXO39 HGNC NCBI

Linked Data

dbSNP Id: rs775766258
ExAC: 17:6684173 TGATA / T
gnomAD v2: 17-6684173-TGATA-T
gnomAD v3: 17-6780854-TGATA-T
gnomAD v4: 17-6780854-TGATA-T
MyVariant Identifiers: chr17:g.6684174_6684177del (hg19) chr17:g.6780855_6780858del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6780858_6780861del , CM000679.2:g.6780858_6780861del GRCh38
NC_000017.10:g.6684177_6684180del , CM000679.1:g.6684177_6684180del GRCh37
NC_000017.9:g.6624901_6624904del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000321535.5:c.990_993del MANE Select ENSP00000321386.4:p.Asp331SerfsTer12
ENST00000321535.4:c.990_993del ENSP00000321386.4:p.Asp331SerfsTer12
NM_153230.2:c.990_993del NP_694962.1:p.Asp331SerfsTer12
XM_011523697.1:c.990_993del XP_011521999.1:p.Asp331SerfsTer12
XR_243544.3:n.1168_1171del
NM_153230.3:c.990_993del MANE Select NP_694962.1:p.Asp331SerfsTer12
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