Canonical Allele Identifier: CA2530512843
Gene: SBF2 HGNC NCBI
SBF2-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.9781101_9781103del , CM000673.2:g.9781101_9781103del GRCh38
NC_000011.9:g.9802648_9802650del , CM000673.1:g.9802648_9802650del GRCh37
NC_000011.8:g.9759224_9759226del NCBI36
NG_008074.1:g.518109_518111del , LRG_267:g.518109_518111del

Transcript Alleles

HGVS Amino-acid Change
ENST00000524961.6:n.1935+408_1935+410del (SBF2)
ENST00000675281.2:c.5526+408_5526+410del (SBF2) ENSP00000502491.1:n.5526+408_5526+410del
ENST00000676324.2:c.*1759+408_*1759+410del (SBF2) ENSP00000502578.1:n.*1759+408_*1759+410del
ENST00000676387.2:c.5508+408_5508+410del (SBF2) ENSP00000502779.1:n.5508+408_5508+410del
ENST00000688344.1:c.5058+408_5058+410del (SBF2) ENSP00000509987.1:n.5058+408_5058+410del
ENST00000689128.1:c.5547+408_5547+410del (SBF2) ENSP00000509587.1:n.5547+408_5547+410del
ENST00000689258.1:c.5388+408_5388+410del (SBF2) ENSP00000510475.1:n.5388+408_5388+410del
ENST00000689342.1:c.1617+408_1617+410del (SBF2)
ENST00000689356.1:n.2622+408_2622+410del (SBF2)
ENST00000689940.1:c.5445+408_5445+410del (SBF2) ENSP00000508452.1:n.5445+408_5445+410del
ENST00000690437.1:n.1400+408_1400+410del (SBF2)
ENST00000690944.1:c.1531+408_1531+410del (SBF2)
ENST00000691616.1:n.1927+408_1927+410del (SBF2)
ENST00000692716.1:c.5322+408_5322+410del (SBF2) ENSP00000509545.1:n.5322+408_5322+410del
ENST00000693541.1:n.2370+408_2370+410del (SBF2)
ENST00000256190.13:c.5451+408_5451+410del (SBF2) MANE Select ENSP00000256190.8:n.5451+408_5451+410del
ENST00000675281.1:c.5526+408_5526+410del (SBF2) ENSP00000502491.1:n.5526+408_5526+410del
ENST00000676324.1:c.*1759+408_*1759+410del (SBF2) ENSP00000502578.1:n.*1759+408_*1759+410del
ENST00000676387.1:c.5508+408_5508+410del (SBF2) ENSP00000502779.1:n.5508+408_5508+410del
ENST00000256190.12:c.5451+408_5451+410del (SBF2) ENSP00000256190.8:n.5451+408_5451+410del
ENST00000525040.5:n.754+408_754+410del (SBF2)
ENST00000617179.4:c.5310+408_5310+410del (SBF2) ENSP00000482806.1:n.5310+408_5310+410del
NM_030962.3:c.5451+408_5451+410del , LRG_267t1:c.5451+408_5451+410del (SBF2) NP_112224.1:n.5451+408_5451+410del
NR_036485.1:n.211+22598_211+22600del (SBF2-AS1)
XM_005253154.3:c.5547+408_5547+410del (SBF2) XP_005253211.1:n.5547+408_5547+410del
XM_005253155.3:c.5418+408_5418+410del (SBF2) XP_005253212.1:n.5418+408_5418+410del
XM_011520394.1:c.5433+408_5433+410del (SBF2) XP_011518696.1:n.5433+408_5433+410del
XR_931024.1:n.200+526_200+528del
XR_931025.1:n.200+526_200+528del
XM_005253154.5:c.5547+408_5547+410del (SBF2) XP_005253211.1:n.5547+408_5547+410del
XM_005253155.5:c.5418+408_5418+410del (SBF2) XP_005253212.1:n.5418+408_5418+410del
XM_011520394.3:c.5433+408_5433+410del (SBF2) XP_011518696.1:n.5433+408_5433+410del
XM_017018372.2:c.5409+408_5409+410del (SBF2) XP_016873861.1:n.5409+408_5409+410del
XM_017018373.2:c.5409+408_5409+410del (SBF2) XP_016873862.1:n.5409+408_5409+410del
XM_017018374.2:c.5322+408_5322+410del (SBF2) XP_016873863.1:n.5322+408_5322+410del
XM_017018375.2:c.5310+408_5310+410del (SBF2) XP_016873864.1:n.5310+408_5310+410del
XR_001747994.2:n.5558+408_5558+410del (SBF2)
XR_001748470.1:n.200+526_200+528del
XR_001748471.1:n.85+526_85+528del
NM_001386339.1:c.5547+408_5547+410del (SBF2) NP_001373268.1:n.5547+408_5547+410del
NM_001386342.1:c.5322+408_5322+410del (SBF2) NP_001373271.1:n.5322+408_5322+410del
NM_030962.4:c.5451+408_5451+410del (SBF2) MANE Select NP_112224.1:n.5451+408_5451+410del