Canonical Allele Identifier: CA645372254

Gene: FBXL4

Linked Data

• ClinVar Variation Id: 437499
• ClinVar RCV Id: RCV000502558 ; RCV001531014
• dbSNP Id: rs1554215986
• gnomAD v4: 6-98875467-GTC-G
• MyVariant Identifiers: chr6:g.99323344_99323345del (hg19) ; chr6:g.98875468_98875469del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.98875469_98875470del , CM000668.2:g.98875469_98875470del	GRCh38
NC_000006.11:g.99323345_99323346del , CM000668.1:g.99323345_99323346del	GRCh37
NC_000006.10:g.99430066_99430067del	NCBI36
NG_033903.1:g.77538_77539del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369244.7:c.1648_1649del MANE Select	ENSP00000358247.1:p.Asp550HisfsTer2
ENST00000229971.2:c.1648_1649del	ENSP00000229971.1:p.Asp550HisfsTer2
ENST00000369244.6:c.1648_1649del	ENSP00000358247.1:p.Asp550HisfsTer2
NM_001278716.1:c.1648_1649del	NP_001265645.1:p.Asp550HisfsTer2
NM_012160.4:c.1648_1649del	NP_036292.2:p.Asp550HisfsTer2
NR_103836.1:n.1693_1694del
XM_005266930.1:c.1576_1577del	XP_005266987.1:p.Asp526HisfsTer2
XM_005266930.3:c.1576_1577del	XP_005266987.1:p.Asp526HisfsTer2
XM_017010726.1:c.1648_1649del	XP_016866215.1:p.Asp550HisfsTer2
XM_017010727.2:c.1576_1577del	XP_016866216.1:p.Asp526HisfsTer2
XM_017010728.1:c.922_923del	XP_016866217.1:p.Asp308HisfsTer2
NM_001278716.2:c.1648_1649del MANE Select	NP_001265645.1:p.Asp550HisfsTer2
NR_103836.2:n.1633_1634del
NM_012160.5:c.1648_1649del	NP_036292.2:p.Asp550HisfsTer2