Canonical Allele Identifier: CA10581331

Gene: FBXL4

Linked Data

• ClinVar Variation Id: 235493
• ClinVar RCV Id: RCV000224238 ; RCV002283469
• dbSNP Id: rs879255542
• gnomAD v4: 6-98875676-G-GT
• MyVariant Identifiers: chr6:g.99323552_99323553insT (hg19) ; chr6:g.98875676_98875677insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.98875682dup , CM000668.2:g.98875682dup	GRCh38
NC_000006.11:g.99323558dup , CM000668.1:g.99323558dup	GRCh37
NC_000006.10:g.99430279dup	NCBI36
NG_033903.1:g.77330dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369244.7:c.1440dup MANE Select	ENSP00000358247.1:p.Leu481ThrfsTer10
ENST00000229971.2:c.1440dup	ENSP00000229971.1:p.Leu481ThrfsTer10
ENST00000369244.6:c.1440dup	ENSP00000358247.1:p.Leu481ThrfsTer10
NM_001278716.1:c.1440dup	NP_001265645.1:p.Leu481ThrfsTer10
NM_012160.4:c.1440dup	NP_036292.2:p.Leu481ThrfsTer10
NR_103836.1:n.1485dup
XM_005266930.1:c.1368dup	XP_005266987.1:p.Leu457ThrfsTer10
XM_005266930.3:c.1368dup	XP_005266987.1:p.Leu457ThrfsTer10
XM_017010726.1:c.1440dup	XP_016866215.1:p.Leu481ThrfsTer10
XM_017010727.2:c.1368dup	XP_016866216.1:p.Leu457ThrfsTer10
XM_017010728.1:c.714dup	XP_016866217.1:p.Leu239ThrfsTer10
NM_001278716.2:c.1440dup MANE Select	NP_001265645.1:p.Leu481ThrfsTer10
NR_103836.2:n.1425dup
NM_012160.5:c.1440dup	NP_036292.2:p.Leu481ThrfsTer10