Canonical Allele Identifier: CA682344163

Gene: SBF2 SBF2-AS1

Linked Data

• ClinVar Variation Id: 1351692
• ClinVar RCV Id: RCV002044920
• dbSNP Id: rs1428808794
• gnomAD v3: 11-9781500-A-AACTT
• gnomAD v4: 11-9781500-A-AACTT
• MyVariant Identifiers: chr11:g.9803047_9803048insACTT (hg19) ; chr11:g.9781500_9781501insACTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9781503_9781506dup , CM000673.2:g.9781503_9781506dup	GRCh38
NC_000011.9:g.9803050_9803053dup , CM000673.1:g.9803050_9803053dup	GRCh37
NC_000011.8:g.9759626_9759629dup	NCBI36
NG_008074.1:g.517704_517707dup , LRG_267:g.517704_517707dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524961.6:n.1935+3_1935+6dup (SBF2)
ENST00000675281.2:c.5526+3_5526+6dup (SBF2)	ENSP00000502491.1:n.5526+3_5526+6dup
ENST00000676324.2:c.*1759+3_*1759+6dup (SBF2)	ENSP00000502578.1:n.*1759+3_*1759+6dup
ENST00000676387.2:c.5508+3_5508+6dup (SBF2)	ENSP00000502779.1:n.5508+3_5508+6dup
ENST00000688344.1:c.5058+3_5058+6dup (SBF2)	ENSP00000509987.1:n.5058+3_5058+6dup
ENST00000689128.1:c.5547+3_5547+6dup (SBF2)	ENSP00000509587.1:n.5547+3_5547+6dup
ENST00000689258.1:c.5388+3_5388+6dup (SBF2)	ENSP00000510475.1:n.5388+3_5388+6dup
ENST00000689342.1:c.1617+3_1617+6dup (SBF2)
ENST00000689356.1:n.2622+3_2622+6dup (SBF2)
ENST00000689940.1:c.5445+3_5445+6dup (SBF2)	ENSP00000508452.1:n.5445+3_5445+6dup
ENST00000690437.1:n.1400+3_1400+6dup (SBF2)
ENST00000690944.1:c.1531+3_1531+6dup (SBF2)
ENST00000691616.1:n.1927+3_1927+6dup (SBF2)
ENST00000692716.1:c.5322+3_5322+6dup (SBF2)	ENSP00000509545.1:n.5322+3_5322+6dup
ENST00000693541.1:n.2370+3_2370+6dup (SBF2)
ENST00000256190.13:c.5451+3_5451+6dup (SBF2) MANE Select	ENSP00000256190.8:n.5451+3_5451+6dup
ENST00000675281.1:c.5526+3_5526+6dup (SBF2)	ENSP00000502491.1:n.5526+3_5526+6dup
ENST00000676324.1:c.*1759+3_*1759+6dup (SBF2)	ENSP00000502578.1:n.*1759+3_*1759+6dup
ENST00000676387.1:c.5508+3_5508+6dup (SBF2)	ENSP00000502779.1:n.5508+3_5508+6dup
ENST00000256190.12:c.5451+3_5451+6dup (SBF2)	ENSP00000256190.8:n.5451+3_5451+6dup
ENST00000525040.5:n.754+3_754+6dup (SBF2)
ENST00000617179.4:c.5310+3_5310+6dup (SBF2)	ENSP00000482806.1:n.5310+3_5310+6dup
NM_030962.3:c.5451+3_5451+6dup , LRG_267t1:c.5451+3_5451+6dup (SBF2)	NP_112224.1:n.5451+3_5451+6dup
NR_036485.1:n.211+23000_211+23003dup (SBF2-AS1)
XM_005253154.3:c.5547+3_5547+6dup (SBF2)	XP_005253211.1:n.5547+3_5547+6dup
XM_005253155.3:c.5418+3_5418+6dup (SBF2)	XP_005253212.1:n.5418+3_5418+6dup
XM_011520394.1:c.5433+3_5433+6dup (SBF2)	XP_011518696.1:n.5433+3_5433+6dup
XR_931024.1:n.200+928_200+931dup
XR_931025.1:n.200+928_200+931dup
XM_005253154.5:c.5547+3_5547+6dup (SBF2)	XP_005253211.1:n.5547+3_5547+6dup
XM_005253155.5:c.5418+3_5418+6dup (SBF2)	XP_005253212.1:n.5418+3_5418+6dup
XM_011520394.3:c.5433+3_5433+6dup (SBF2)	XP_011518696.1:n.5433+3_5433+6dup
XM_017018372.2:c.5409+3_5409+6dup (SBF2)	XP_016873861.1:n.5409+3_5409+6dup
XM_017018373.2:c.5409+3_5409+6dup (SBF2)	XP_016873862.1:n.5409+3_5409+6dup
XM_017018374.2:c.5322+3_5322+6dup (SBF2)	XP_016873863.1:n.5322+3_5322+6dup
XM_017018375.2:c.5310+3_5310+6dup (SBF2)	XP_016873864.1:n.5310+3_5310+6dup
XR_001747994.2:n.5558+3_5558+6dup (SBF2)
XR_001748470.1:n.200+928_200+931dup
XR_001748471.1:n.85+928_85+931dup
NM_001386339.1:c.5547+3_5547+6dup (SBF2)	NP_001373268.1:n.5547+3_5547+6dup
NM_001386342.1:c.5322+3_5322+6dup (SBF2)	NP_001373271.1:n.5322+3_5322+6dup
NM_030962.4:c.5451+3_5451+6dup (SBF2) MANE Select	NP_112224.1:n.5451+3_5451+6dup