Canonical Allele Identifier: CA682344129

Gene: SBF2 SBF2-AS1

Linked Data

• ClinVar Variation Id: 1462330
• ClinVar RCV Id: RCV001954234
• dbSNP Id: rs1326251358
• gnomAD v4: 11-9781489-GAAGT-G
• MyVariant Identifiers: chr11:g.9803037_9803040del (hg19) ; chr11:g.9781490_9781493del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9781493_9781496del , CM000673.2:g.9781493_9781496del	GRCh38
NC_000011.9:g.9803040_9803043del , CM000673.1:g.9803040_9803043del	GRCh37
NC_000011.8:g.9759616_9759619del	NCBI36
NG_008074.1:g.517715_517718del , LRG_267:g.517715_517718del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524961.6:n.1935+14_1935+17del (SBF2)
ENST00000675281.2:c.5526+14_5526+17del (SBF2)	ENSP00000502491.1:n.5526+14_5526+17del
ENST00000676324.2:c.*1759+14_*1759+17del (SBF2)	ENSP00000502578.1:n.*1759+14_*1759+17del
ENST00000676387.2:c.5508+14_5508+17del (SBF2)	ENSP00000502779.1:n.5508+14_5508+17del
ENST00000688344.1:c.5058+14_5058+17del (SBF2)	ENSP00000509987.1:n.5058+14_5058+17del
ENST00000689128.1:c.5547+14_5547+17del (SBF2)	ENSP00000509587.1:n.5547+14_5547+17del
ENST00000689258.1:c.5388+14_5388+17del (SBF2)	ENSP00000510475.1:n.5388+14_5388+17del
ENST00000689342.1:c.1617+14_1617+17del (SBF2)
ENST00000689356.1:n.2622+14_2622+17del (SBF2)
ENST00000689940.1:c.5445+14_5445+17del (SBF2)	ENSP00000508452.1:n.5445+14_5445+17del
ENST00000690437.1:n.1400+14_1400+17del (SBF2)
ENST00000690944.1:c.1531+14_1531+17del (SBF2)
ENST00000691616.1:n.1927+14_1927+17del (SBF2)
ENST00000692716.1:c.5322+14_5322+17del (SBF2)	ENSP00000509545.1:n.5322+14_5322+17del
ENST00000693541.1:n.2370+14_2370+17del (SBF2)
ENST00000256190.13:c.5451+14_5451+17del (SBF2) MANE Select	ENSP00000256190.8:n.5451+14_5451+17del
ENST00000675281.1:c.5526+14_5526+17del (SBF2)	ENSP00000502491.1:n.5526+14_5526+17del
ENST00000676324.1:c.*1759+14_*1759+17del (SBF2)	ENSP00000502578.1:n.*1759+14_*1759+17del
ENST00000676387.1:c.5508+14_5508+17del (SBF2)	ENSP00000502779.1:n.5508+14_5508+17del
ENST00000256190.12:c.5451+14_5451+17del (SBF2)	ENSP00000256190.8:n.5451+14_5451+17del
ENST00000525040.5:n.754+14_754+17del (SBF2)
ENST00000617179.4:c.5310+14_5310+17del (SBF2)	ENSP00000482806.1:n.5310+14_5310+17del
NM_030962.3:c.5451+14_5451+17del , LRG_267t1:c.5451+14_5451+17del (SBF2)	NP_112224.1:n.5451+14_5451+17del
NR_036485.1:n.211+22990_211+22993del (SBF2-AS1)
XM_005253154.3:c.5547+14_5547+17del (SBF2)	XP_005253211.1:n.5547+14_5547+17del
XM_005253155.3:c.5418+14_5418+17del (SBF2)	XP_005253212.1:n.5418+14_5418+17del
XM_011520394.1:c.5433+14_5433+17del (SBF2)	XP_011518696.1:n.5433+14_5433+17del
XR_931024.1:n.200+918_200+921del
XR_931025.1:n.200+918_200+921del
XM_005253154.5:c.5547+14_5547+17del (SBF2)	XP_005253211.1:n.5547+14_5547+17del
XM_005253155.5:c.5418+14_5418+17del (SBF2)	XP_005253212.1:n.5418+14_5418+17del
XM_011520394.3:c.5433+14_5433+17del (SBF2)	XP_011518696.1:n.5433+14_5433+17del
XM_017018372.2:c.5409+14_5409+17del (SBF2)	XP_016873861.1:n.5409+14_5409+17del
XM_017018373.2:c.5409+14_5409+17del (SBF2)	XP_016873862.1:n.5409+14_5409+17del
XM_017018374.2:c.5322+14_5322+17del (SBF2)	XP_016873863.1:n.5322+14_5322+17del
XM_017018375.2:c.5310+14_5310+17del (SBF2)	XP_016873864.1:n.5310+14_5310+17del
XR_001747994.2:n.5558+14_5558+17del (SBF2)
XR_001748470.1:n.200+918_200+921del
XR_001748471.1:n.85+918_85+921del
NM_001386339.1:c.5547+14_5547+17del (SBF2)	NP_001373268.1:n.5547+14_5547+17del
NM_001386342.1:c.5322+14_5322+17del (SBF2)	NP_001373271.1:n.5322+14_5322+17del
NM_030962.4:c.5451+14_5451+17del (SBF2) MANE Select	NP_112224.1:n.5451+14_5451+17del