Canonical Allele Identifier: CA1139659735
Gene: FBXL4 HGNC NCBI

Linked Data

ClinVar Variation Id: 986069
ClinVar RCV Id: RCV001267293
dbSNP Id: rs1770579596

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.98874404_98874406del , CM000668.2:g.98874404_98874406del GRCh38
NC_000006.11:g.99322280_99322282del , CM000668.1:g.99322280_99322282del GRCh37
NC_000006.10:g.99429001_99429003del NCBI36
NG_033903.1:g.78603_78605del

Transcript Alleles

HGVS Amino-acid Change
ENST00000369244.7:c.1740_1742del MANE Select ENSP00000358247.1:p.Leu581del
ENST00000229971.2:c.1740_1742del ENSP00000229971.1:p.Leu581del
ENST00000369244.6:c.1740_1742del ENSP00000358247.1:p.Leu581del
NM_001278716.1:c.1740_1742del NP_001265645.1:p.Leu581del
NM_012160.4:c.1740_1742del NP_036292.2:p.Leu581del
NR_103836.1:n.1785_1787del
XM_005266930.1:c.1668_1670del XP_005266987.1:p.Leu557del
XM_005266930.3:c.1668_1670del XP_005266987.1:p.Leu557del
XM_017010726.1:c.1740_1742del XP_016866215.1:p.Leu581del
XM_017010727.2:c.1668_1670del XP_016866216.1:p.Leu557del
XM_017010728.1:c.1014_1016del XP_016866217.1:p.Leu339del
NM_001278716.2:c.1740_1742del MANE Select NP_001265645.1:p.Leu581del
NR_103836.2:n.1725_1727del
NM_012160.5:c.1740_1742del NP_036292.2:p.Leu581del