Linked Data
ClinVar Variation Id:
421526
dbSNP Id:
rs1064795190
gnomAD v3:
11-9781493-T-TAAGA
gnomAD v4:
11-9781493-T-TAAGA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.9781494_9781497dup , CM000673.2:g.9781494_9781497dup | GRCh38 |
| NC_000011.9:g.9803041_9803044dup , CM000673.1:g.9803041_9803044dup | GRCh37 |
| NC_000011.8:g.9759617_9759620dup | NCBI36 |
| NG_008074.1:g.517711_517714dup , LRG_267:g.517711_517714dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524961.6:n.1935+10_1935+13dup (SBF2) | ||
| ENST00000675281.2:c.5526+10_5526+13dup (SBF2) | ENSP00000502491.1:n.5526+10_5526+13dup | |
| ENST00000676324.2:c.*1759+10_*1759+13dup (SBF2) | ENSP00000502578.1:n.*1759+10_*1759+13dup | |
| ENST00000676387.2:c.5508+10_5508+13dup (SBF2) | ENSP00000502779.1:n.5508+10_5508+13dup | |
| ENST00000688344.1:c.5058+10_5058+13dup (SBF2) | ENSP00000509987.1:n.5058+10_5058+13dup | |
| ENST00000689128.1:c.5547+10_5547+13dup (SBF2) | ENSP00000509587.1:n.5547+10_5547+13dup | |
| ENST00000689258.1:c.5388+10_5388+13dup (SBF2) | ENSP00000510475.1:n.5388+10_5388+13dup | |
| ENST00000689342.1:c.1617+10_1617+13dup (SBF2) | ||
| ENST00000689356.1:n.2622+10_2622+13dup (SBF2) | ||
| ENST00000689940.1:c.5445+10_5445+13dup (SBF2) | ENSP00000508452.1:n.5445+10_5445+13dup | |
| ENST00000690437.1:n.1400+10_1400+13dup (SBF2) | ||
| ENST00000690944.1:c.1531+10_1531+13dup (SBF2) | ||
| ENST00000691616.1:n.1927+10_1927+13dup (SBF2) | ||
| ENST00000692716.1:c.5322+10_5322+13dup (SBF2) | ENSP00000509545.1:n.5322+10_5322+13dup | |
| ENST00000693541.1:n.2370+10_2370+13dup (SBF2) | ||
| ENST00000256190.13:c.5451+10_5451+13dup (SBF2) MANE Select | ENSP00000256190.8:n.5451+10_5451+13dup | |
| ENST00000675281.1:c.5526+10_5526+13dup (SBF2) | ENSP00000502491.1:n.5526+10_5526+13dup | |
| ENST00000676324.1:c.*1759+10_*1759+13dup (SBF2) | ENSP00000502578.1:n.*1759+10_*1759+13dup | |
| ENST00000676387.1:c.5508+10_5508+13dup (SBF2) | ENSP00000502779.1:n.5508+10_5508+13dup | |
| ENST00000256190.12:c.5451+10_5451+13dup (SBF2) | ENSP00000256190.8:n.5451+10_5451+13dup | |
| ENST00000525040.5:n.754+10_754+13dup (SBF2) | ||
| ENST00000617179.4:c.5310+10_5310+13dup (SBF2) | ENSP00000482806.1:n.5310+10_5310+13dup | |
| NM_030962.3:c.5451+10_5451+13dup , LRG_267t1:c.5451+10_5451+13dup (SBF2) | NP_112224.1:n.5451+10_5451+13dup | |
| NR_036485.1:n.211+22991_211+22994dup (SBF2-AS1) | ||
| XM_005253154.3:c.5547+10_5547+13dup (SBF2) | XP_005253211.1:n.5547+10_5547+13dup | |
| XM_005253155.3:c.5418+10_5418+13dup (SBF2) | XP_005253212.1:n.5418+10_5418+13dup | |
| XM_011520394.1:c.5433+10_5433+13dup (SBF2) | XP_011518696.1:n.5433+10_5433+13dup | |
| XR_931024.1:n.200+919_200+922dup | ||
| XR_931025.1:n.200+919_200+922dup | ||
| XM_005253154.5:c.5547+10_5547+13dup (SBF2) | XP_005253211.1:n.5547+10_5547+13dup | |
| XM_005253155.5:c.5418+10_5418+13dup (SBF2) | XP_005253212.1:n.5418+10_5418+13dup | |
| XM_011520394.3:c.5433+10_5433+13dup (SBF2) | XP_011518696.1:n.5433+10_5433+13dup | |
| XM_017018372.2:c.5409+10_5409+13dup (SBF2) | XP_016873861.1:n.5409+10_5409+13dup | |
| XM_017018373.2:c.5409+10_5409+13dup (SBF2) | XP_016873862.1:n.5409+10_5409+13dup | |
| XM_017018374.2:c.5322+10_5322+13dup (SBF2) | XP_016873863.1:n.5322+10_5322+13dup | |
| XM_017018375.2:c.5310+10_5310+13dup (SBF2) | XP_016873864.1:n.5310+10_5310+13dup | |
| XR_001747994.2:n.5558+10_5558+13dup (SBF2) | ||
| XR_001748470.1:n.200+919_200+922dup | ||
| XR_001748471.1:n.85+919_85+922dup | ||
| NM_001386339.1:c.5547+10_5547+13dup (SBF2) | NP_001373268.1:n.5547+10_5547+13dup | |
| NM_001386342.1:c.5322+10_5322+13dup (SBF2) | NP_001373271.1:n.5322+10_5322+13dup | |
| NM_030962.4:c.5451+10_5451+13dup (SBF2) MANE Select | NP_112224.1:n.5451+10_5451+13dup |