Canonical Allele Identifier: CA3497372

Gene: FBXO38

Linked Data

• ClinVar Variation Id: 1979602
• ClinVar RCV Id: RCV002755988 ; RCV003167715 ; RCV003926443
• dbSNP Id: rs761558731
• ExAC: 5:147805073 C / CT
• gnomAD v2: 5-147805073-C-CT
• gnomAD v3: 5-148425510-C-CT
• gnomAD v4: 5-148425510-C-CT
• MyVariant Identifiers: chr5:g.147805074_147805075insT (hg19) ; chr5:g.147805073_147805074insT (hg19) ; chr5:g.148425511_148425512insT (hg38) ; chr5:g.148425510_148425511insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.148425518dup , CM000667.2:g.148425518dup	GRCh38
NC_000005.9:g.147805081dup , CM000667.1:g.147805081dup	GRCh37
NC_000005.8:g.147785274dup	NCBI36
NG_033871.1:g.46584dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340253.10:c.1739-4dup MANE Select	ENSP00000342023.6:n.1739-4dup
ENST00000296701.10:c.1739-4dup	ENSP00000296701.6:n.1739-4dup
ENST00000340253.9:c.1739-4dup	ENSP00000342023.5:n.1739-4dup
ENST00000394370.7:c.1739-4dup	ENSP00000377895.3:n.1739-4dup
ENST00000513826.1:c.1739-4dup	ENSP00000426410.1:n.1739-4dup
ENST00000514832.1:n.370-4dup
NM_001271723.1:c.1739-4dup	NP_001258652.1:n.1739-4dup
NM_030793.4:c.1739-4dup	NP_110420.3:n.1739-4dup
XM_005268513.1:c.1739-4dup	XP_005268570.1:n.1739-4dup
XM_006714797.1:c.1739-4dup	XP_006714860.1:n.1739-4dup
XM_011537683.1:c.641-4dup	XP_011535985.1:n.641-4dup
XM_011537684.1:c.539-4dup	XP_011535986.1:n.539-4dup
NM_205836.2:c.1739-4dup	NP_995308.1:n.1739-4dup
XM_006714797.2:c.1739-4dup	XP_006714860.1:n.1739-4dup
XM_011537684.3:c.539-4dup	XP_011535986.1:n.539-4dup
XM_017009899.1:c.641-4dup	XP_016865388.1:n.641-4dup
XM_017009900.2:c.539-4dup	XP_016865389.1:n.539-4dup
XM_017009901.2:c.641-4dup	XP_016865390.1:n.641-4dup
XM_017009902.2:c.539-4dup	XP_016865391.1:n.539-4dup
XM_024446223.1:c.1739-4dup	XP_024301991.1:n.1739-4dup
XR_001742284.1:n.1885-4dup
NM_030793.5:c.1739-4dup	NP_110420.3:n.1739-4dup
NM_205836.3:c.1739-4dup MANE Select	NP_995308.1:n.1739-4dup
NM_001271723.2:c.1739-4dup	NP_001258652.1:n.1739-4dup