Canonical Allele Identifier: CA143896040

Gene: FBXL4

Linked Data

• ClinVar Variation Id: 680585
• ClinVar RCV Id: RCV000840386
• dbSNP Id: rs5878565
• gnomAD v2: 6-99322999-C-CT
• gnomAD v3: 6-98875123-C-CT
• gnomAD v4: 6-98875123-C-CT
• MyVariant Identifiers: chr6:g.99322999_99323000insT (hg19) ; chr6:g.98875123_98875124insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.98875123_98875124insT , CM000668.2:g.98875123_98875124insT	GRCh38
NC_000006.11:g.99322999_99323000insT , CM000668.1:g.99322999_99323000insT	GRCh37
NC_000006.10:g.99429720_99429721insT	NCBI36
NG_033903.1:g.77883_77884insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369244.7:c.1702+291_1702+292insA MANE Select	ENSP00000358247.1:n.1702+291_1702+292insA
ENST00000229971.2:c.1702+291_1702+292insA	ENSP00000229971.1:n.1702+291_1702+292insA
ENST00000369244.6:c.1702+291_1702+292insA	ENSP00000358247.1:n.1702+291_1702+292insA
NM_001278716.1:c.1702+291_1702+292insA	NP_001265645.1:n.1702+291_1702+292insA
NM_012160.4:c.1702+291_1702+292insA	NP_036292.2:n.1702+291_1702+292insA
NR_103836.1:n.1747+291_1747+292insA
XM_005266930.1:c.1630+291_1630+292insA	XP_005266987.1:n.1630+291_1630+292insA
XM_005266930.3:c.1630+291_1630+292insA	XP_005266987.1:n.1630+291_1630+292insA
XM_017010726.1:c.1702+291_1702+292insA	XP_016866215.1:n.1702+291_1702+292insA
XM_017010727.2:c.1630+291_1630+292insA	XP_016866216.1:n.1630+291_1630+292insA
XM_017010728.1:c.976+291_976+292insA	XP_016866217.1:n.976+291_976+292insA
NM_001278716.2:c.1702+291_1702+292insA MANE Select	NP_001265645.1:n.1702+291_1702+292insA
NR_103836.2:n.1687+291_1687+292insA
NM_012160.5:c.1702+291_1702+292insA	NP_036292.2:n.1702+291_1702+292insA