Linked Data
ClinVar Variation Id:
397621
dbSNP Id:
rs750958357
ExAC:
11:9809201 CTTT / C
gnomAD v2:
11-9809201-CTTT-C
gnomAD v3:
11-9787654-CTTT-C
gnomAD v4:
11-9787654-CTTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.9787655_9787657del , CM000673.2:g.9787655_9787657del | GRCh38 |
| NC_000011.9:g.9809202_9809204del , CM000673.1:g.9809202_9809204del | GRCh37 |
| NC_000011.8:g.9765778_9765780del | NCBI36 |
| NG_008074.1:g.511551_511553del , LRG_267:g.511551_511553del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524961.6:n.1498_1500del (SBF2) | ||
| ENST00000532095.2:n.1550_1552del (SBF2) | ||
| ENST00000675281.2:c.5089_5091del (SBF2) | ENSP00000502491.1:p.Lys1697del | |
| ENST00000676324.2:c.*1322_*1324del (SBF2) | ENSP00000502578.1:n.*1322_*1324del | |
| ENST00000676387.2:c.5071_5073del (SBF2) | ENSP00000502779.1:p.Lys1691del | |
| ENST00000688344.1:c.4621_4623del (SBF2) | ENSP00000509987.1:p.Lys1541del | |
| ENST00000689128.1:c.5110_5112del (SBF2) | ENSP00000509587.1:p.Lys1704del | |
| ENST00000689258.1:c.4951_4953del (SBF2) | ENSP00000510475.1:p.Lys1651del | |
| ENST00000689342.1:c.1180_1182del (SBF2) | ||
| ENST00000689356.1:n.2185_2187del (SBF2) | ||
| ENST00000689597.1:c.3718_3720del (SBF2) | ENSP00000510781.1:p.Lys1240del | |
| ENST00000689940.1:c.5008_5010del (SBF2) | ENSP00000508452.1:p.Lys1670del | |
| ENST00000690944.1:c.1094_1096del (SBF2) | ||
| ENST00000691616.1:n.1490_1492del (SBF2) | ||
| ENST00000692716.1:c.4885_4887del (SBF2) | ENSP00000509545.1:p.Lys1629del | |
| ENST00000693541.1:n.1933_1935del (SBF2) | ||
| ENST00000256190.13:c.5014_5016del (SBF2) MANE Select | ENSP00000256190.8:p.Lys1672del | |
| ENST00000675281.1:c.5089_5091del (SBF2) | ENSP00000502491.1:p.Lys1697del | |
| ENST00000676324.1:c.*1322_*1324del (SBF2) | ENSP00000502578.1:n.*1322_*1324del | |
| ENST00000676387.1:c.5071_5073del (SBF2) | ENSP00000502779.1:p.Lys1691del | |
| ENST00000256190.12:c.5014_5016del (SBF2) | ENSP00000256190.8:p.Lys1672del | |
| ENST00000525040.5:n.317_319del (SBF2) | ||
| ENST00000532095.1:c.178_180del (SBF2) | ENSP00000434620.1:p.Lys60del | |
| ENST00000617179.4:c.4873_4875del (SBF2) | ENSP00000482806.1:p.Lys1625del | |
| NM_030962.3:c.5014_5016del , LRG_267t1:c.5014_5016del (SBF2) | NP_112224.1:p.Lys1672del | |
| NR_036485.1:n.212-20193_212-20191del (SBF2-AS1) | ||
| XM_005253154.3:c.5110_5112del (SBF2) | XP_005253211.1:p.Lys1704del | |
| XM_005253155.3:c.4981_4983del (SBF2) | XP_005253212.1:p.Lys1661del | |
| XM_011520394.1:c.4996_4998del (SBF2) | XP_011518696.1:p.Lys1666del | |
| XR_931024.1:n.455+2879_455+2881del | ||
| XR_931025.1:n.271-3214_271-3212del | ||
| XM_005253154.5:c.5110_5112del (SBF2) | XP_005253211.1:p.Lys1704del | |
| XM_005253155.5:c.4981_4983del (SBF2) | XP_005253212.1:p.Lys1661del | |
| XM_011520394.3:c.4996_4998del (SBF2) | XP_011518696.1:p.Lys1666del | |
| XM_017018372.2:c.4972_4974del (SBF2) | XP_016873861.1:p.Lys1658del | |
| XM_017018373.2:c.4972_4974del (SBF2) | XP_016873862.1:p.Lys1658del | |
| XM_017018374.2:c.4885_4887del (SBF2) | XP_016873863.1:p.Lys1629del | |
| XM_017018375.2:c.4873_4875del (SBF2) | XP_016873864.1:p.Lys1625del | |
| XR_001747994.2:n.5121_5123del (SBF2) | ||
| NM_001386339.1:c.5110_5112del (SBF2) | NP_001373268.1:p.Lys1704del | |
| NM_001386342.1:c.4885_4887del (SBF2) | NP_001373271.1:p.Lys1629del | |
| NM_030962.4:c.5014_5016del (SBF2) MANE Select | NP_112224.1:p.Lys1672del |