Canonical Allele Identifier: CA2499218601

Gene: FBXL4

Linked Data

• ClinVar Variation Id: 1184592
• ClinVar RCV Id: RCV001542758
• dbSNP Id: rs2128374874

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.98874395del , CM000668.2:g.98874395del	GRCh38
NC_000006.11:g.99322271del , CM000668.1:g.99322271del	GRCh37
NC_000006.10:g.99428992del	NCBI36
NG_033903.1:g.78613del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369244.7:c.1750del MANE Select	ENSP00000358247.1:p.Cys584ValfsTer21
ENST00000229971.2:c.1750del	ENSP00000229971.1:p.Cys584ValfsTer21
ENST00000369244.6:c.1750del	ENSP00000358247.1:p.Cys584ValfsTer21
NM_001278716.1:c.1750del	NP_001265645.1:p.Cys584ValfsTer21
NM_012160.4:c.1750del	NP_036292.2:p.Cys584ValfsTer21
NR_103836.1:n.1795del
XM_005266930.1:c.1678del	XP_005266987.1:p.Cys560ValfsTer21
XM_005266930.3:c.1678del	XP_005266987.1:p.Cys560ValfsTer21
XM_017010726.1:c.1750del	XP_016866215.1:p.Cys584ValfsTer21
XM_017010727.2:c.1678del	XP_016866216.1:p.Cys560ValfsTer21
XM_017010728.1:c.1024del	XP_016866217.1:p.Cys342ValfsTer21
NM_001278716.2:c.1750del MANE Select	NP_001265645.1:p.Cys584ValfsTer21
NR_103836.2:n.1735del
NM_012160.5:c.1750del	NP_036292.2:p.Cys584ValfsTer21