Canonical Allele Identifier: CA2580075971

Gene: FBXL4

Linked Data

• ClinVar Variation Id: 1696299
• ClinVar RCV Id: RCV002266444
• dbSNP Id: rs2128375658

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.98875573del , CM000668.2:g.98875573del	GRCh38
NC_000006.11:g.99323449del , CM000668.1:g.99323449del	GRCh37
NC_000006.10:g.99430170del	NCBI36
NG_033903.1:g.77434del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369244.7:c.1544del MANE Select	ENSP00000358247.1:p.Cys515SerfsTer?
ENST00000229971.2:c.1544del	ENSP00000229971.1:p.Cys515SerfsTer?
ENST00000369244.6:c.1544del	ENSP00000358247.1:p.Cys515SerfsTer?
NM_001278716.1:c.1544del	NP_001265645.1:p.Cys515SerfsTer?
NM_012160.4:c.1544del	NP_036292.2:p.Cys515SerfsTer?
NR_103836.1:n.1589del
XM_005266930.1:c.1472del	XP_005266987.1:p.Cys491SerfsTer?
XM_005266930.3:c.1472del	XP_005266987.1:p.Cys491SerfsTer?
XM_017010726.1:c.1544del	XP_016866215.1:p.Cys515SerfsTer?
XM_017010727.2:c.1472del	XP_016866216.1:p.Cys491SerfsTer?
XM_017010728.1:c.818del	XP_016866217.1:p.Cys273SerfsTer?
NM_001278716.2:c.1544del MANE Select	NP_001265645.1:p.Cys515SerfsTer?
NR_103836.2:n.1529del
NM_012160.5:c.1544del	NP_036292.2:p.Cys515SerfsTer?