Canonical Allele Identifier: CA597552508

Gene: SBF2 SBF2-AS1

Linked Data

• dbSNP Id: rs1243858457
• gnomAD v2: 11-9803032-AAG-A
• gnomAD v4: 11-9781485-AAG-A
• MyVariant Identifiers: chr11:g.9803033_9803034del (hg19) ; chr11:g.9781486_9781487del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9781489_9781490del , CM000673.2:g.9781489_9781490del	GRCh38
NC_000011.9:g.9803036_9803037del , CM000673.1:g.9803036_9803037del	GRCh37
NC_000011.8:g.9759612_9759613del	NCBI36
NG_008074.1:g.517721_517722del , LRG_267:g.517721_517722del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524961.6:n.1935+20_1935+21del (SBF2)
ENST00000675281.2:c.5526+20_5526+21del (SBF2)	ENSP00000502491.1:n.5526+20_5526+21del
ENST00000676324.2:c.*1759+20_*1759+21del (SBF2)	ENSP00000502578.1:n.*1759+20_*1759+21del
ENST00000676387.2:c.5508+20_5508+21del (SBF2)	ENSP00000502779.1:n.5508+20_5508+21del
ENST00000688344.1:c.5058+20_5058+21del (SBF2)	ENSP00000509987.1:n.5058+20_5058+21del
ENST00000689128.1:c.5547+20_5547+21del (SBF2)	ENSP00000509587.1:n.5547+20_5547+21del
ENST00000689258.1:c.5388+20_5388+21del (SBF2)	ENSP00000510475.1:n.5388+20_5388+21del
ENST00000689342.1:c.1617+20_1617+21del (SBF2)
ENST00000689356.1:n.2622+20_2622+21del (SBF2)
ENST00000689940.1:c.5445+20_5445+21del (SBF2)	ENSP00000508452.1:n.5445+20_5445+21del
ENST00000690437.1:n.1400+20_1400+21del (SBF2)
ENST00000690944.1:c.1531+20_1531+21del (SBF2)
ENST00000691616.1:n.1927+20_1927+21del (SBF2)
ENST00000692716.1:c.5322+20_5322+21del (SBF2)	ENSP00000509545.1:n.5322+20_5322+21del
ENST00000693541.1:n.2370+20_2370+21del (SBF2)
ENST00000256190.13:c.5451+20_5451+21del (SBF2) MANE Select	ENSP00000256190.8:n.5451+20_5451+21del
ENST00000675281.1:c.5526+20_5526+21del (SBF2)	ENSP00000502491.1:n.5526+20_5526+21del
ENST00000676324.1:c.*1759+20_*1759+21del (SBF2)	ENSP00000502578.1:n.*1759+20_*1759+21del
ENST00000676387.1:c.5508+20_5508+21del (SBF2)	ENSP00000502779.1:n.5508+20_5508+21del
ENST00000256190.12:c.5451+20_5451+21del (SBF2)	ENSP00000256190.8:n.5451+20_5451+21del
ENST00000525040.5:n.754+20_754+21del (SBF2)
ENST00000617179.4:c.5310+20_5310+21del (SBF2)	ENSP00000482806.1:n.5310+20_5310+21del
NM_030962.3:c.5451+20_5451+21del , LRG_267t1:c.5451+20_5451+21del (SBF2)	NP_112224.1:n.5451+20_5451+21del
NR_036485.1:n.211+22986_211+22987del (SBF2-AS1)
XM_005253154.3:c.5547+20_5547+21del (SBF2)	XP_005253211.1:n.5547+20_5547+21del
XM_005253155.3:c.5418+20_5418+21del (SBF2)	XP_005253212.1:n.5418+20_5418+21del
XM_011520394.1:c.5433+20_5433+21del (SBF2)	XP_011518696.1:n.5433+20_5433+21del
XR_931024.1:n.200+914_200+915del
XR_931025.1:n.200+914_200+915del
XM_005253154.5:c.5547+20_5547+21del (SBF2)	XP_005253211.1:n.5547+20_5547+21del
XM_005253155.5:c.5418+20_5418+21del (SBF2)	XP_005253212.1:n.5418+20_5418+21del
XM_011520394.3:c.5433+20_5433+21del (SBF2)	XP_011518696.1:n.5433+20_5433+21del
XM_017018372.2:c.5409+20_5409+21del (SBF2)	XP_016873861.1:n.5409+20_5409+21del
XM_017018373.2:c.5409+20_5409+21del (SBF2)	XP_016873862.1:n.5409+20_5409+21del
XM_017018374.2:c.5322+20_5322+21del (SBF2)	XP_016873863.1:n.5322+20_5322+21del
XM_017018375.2:c.5310+20_5310+21del (SBF2)	XP_016873864.1:n.5310+20_5310+21del
XR_001747994.2:n.5558+20_5558+21del (SBF2)
XR_001748470.1:n.200+914_200+915del
XR_001748471.1:n.85+914_85+915del
NM_001386339.1:c.5547+20_5547+21del (SBF2)	NP_001373268.1:n.5547+20_5547+21del
NM_001386342.1:c.5322+20_5322+21del (SBF2)	NP_001373271.1:n.5322+20_5322+21del
NM_030962.4:c.5451+20_5451+21del (SBF2) MANE Select	NP_112224.1:n.5451+20_5451+21del