Canonical Allele Identifier: CA2573052757

Gene: FBXL4

Linked Data

• ClinVar Variation Id: 1341563
• ClinVar RCV Id: RCV001837059
• dbSNP Id: rs2128374840

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.98874357del , CM000668.2:g.98874357del	GRCh38
NC_000006.11:g.99322233del , CM000668.1:g.99322233del	GRCh37
NC_000006.10:g.99428954del	NCBI36
NG_033903.1:g.78650del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369244.7:c.1787del MANE Select	ENSP00000358247.1:p.Ser596CysfsTer9
ENST00000229971.2:c.1787del	ENSP00000229971.1:p.Ser596CysfsTer9
ENST00000369244.6:c.1787del	ENSP00000358247.1:p.Ser596CysfsTer9
NM_001278716.1:c.1787del	NP_001265645.1:p.Ser596CysfsTer9
NM_012160.4:c.1787del	NP_036292.2:p.Ser596CysfsTer9
NR_103836.1:n.1832del
XM_005266930.1:c.1715del	XP_005266987.1:p.Ser572CysfsTer9
XM_005266930.3:c.1715del	XP_005266987.1:p.Ser572CysfsTer9
XM_017010726.1:c.1787del	XP_016866215.1:p.Ser596CysfsTer9
XM_017010727.2:c.1715del	XP_016866216.1:p.Ser572CysfsTer9
XM_017010728.1:c.1061del	XP_016866217.1:p.Ser354CysfsTer9
NM_001278716.2:c.1787del MANE Select	NP_001265645.1:p.Ser596CysfsTer9
NR_103836.2:n.1772del
NM_012160.5:c.1787del	NP_036292.2:p.Ser596CysfsTer9