Canonical Allele Identifier: CA3933363
Gene: FBXL4 HGNC NCBI

Linked Data

ClinVar Variation Id: 419943
ClinVar RCV Id: RCV001722390
dbSNP Id: rs377666976
ExAC: 6:99322328 G / GAAACA
gnomAD v2: 6-99322328-G-GAAACA
gnomAD v3: 6-98874452-G-GAAACA
gnomAD v4: 6-98874452-G-GAAACA
MyVariant Identifiers: chr6:g.99322329_99322333dupAAACA (hg19) chr6:g.99322343_99322344insAAACA (hg19) chr6:g.99322338_99322339insAAACA (hg19) chr6:g.99322328_99322329insAAACA (hg19) chr6:g.98874453_98874457dupAAACA (hg38) chr6:g.98874467_98874468insAAACA (hg38) chr6:g.98874462_98874463insAAACA (hg38) chr6:g.98874452_98874453insAAACA (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.98874473_98874477dup , CM000668.2:g.98874473_98874477dup GRCh38
NC_000006.11:g.99322349_99322353dup , CM000668.1:g.99322349_99322353dup GRCh37
NC_000006.10:g.99429070_99429074dup NCBI36
NG_033903.1:g.78550_78554dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000369244.7:c.1703-16_1703-12dup MANE Select ENSP00000358247.1:n.1703-16_1703-12dup
ENST00000229971.2:c.1703-16_1703-12dup ENSP00000229971.1:n.1703-16_1703-12dup
ENST00000369244.6:c.1703-16_1703-12dup ENSP00000358247.1:n.1703-16_1703-12dup
NM_001278716.1:c.1703-16_1703-12dup NP_001265645.1:n.1703-16_1703-12dup
NM_012160.4:c.1703-16_1703-12dup NP_036292.2:n.1703-16_1703-12dup
NR_103836.1:n.1748-16_1748-12dup
XM_005266930.1:c.1631-16_1631-12dup XP_005266987.1:n.1631-16_1631-12dup
XM_005266930.3:c.1631-16_1631-12dup XP_005266987.1:n.1631-16_1631-12dup
XM_017010726.1:c.1703-16_1703-12dup XP_016866215.1:n.1703-16_1703-12dup
XM_017010727.2:c.1631-16_1631-12dup XP_016866216.1:n.1631-16_1631-12dup
XM_017010728.1:c.977-16_977-12dup XP_016866217.1:n.977-16_977-12dup
NM_001278716.2:c.1703-16_1703-12dup MANE Select NP_001265645.1:n.1703-16_1703-12dup
NR_103836.2:n.1688-16_1688-12dup
NM_012160.5:c.1703-16_1703-12dup NP_036292.2:n.1703-16_1703-12dup
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