Linked Data
ClinVar Variation Id:
811527
ClinVar RCV Id:
RCV001001453
dbSNP Id:
rs575346789
ExAC:
13:52515182 TGA / T
gnomAD v2:
13-52515182-TGA-T
gnomAD v3:
13-51941046-TGA-T
gnomAD v4:
13-51941046-TGA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51941052_51941053del , CM000675.2:g.51941052_51941053del | GRCh38 |
| NC_000013.10:g.52515188_52515189del , CM000675.1:g.52515188_52515189del | GRCh37 |
| NC_000013.9:g.51413189_51413190del | NCBI36 |
| NG_008806.1:g.75447_75448del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000634296.2:c.*1206+33_*1206+34del | ENSP00000489512.2:n.*1206+33_*1206+34del | |
| ENST00000673864.2:c.*2300+33_*2300+34del | ENSP00000501045.2:n.*2300+33_*2300+34del | |
| ENST00000674147.2:c.2935+33_2935+34del | ENSP00000500964.2:n.2935+33_2935+34del | |
| ENST00000242839.10:c.3556+33_3556+34del MANE Select | ENSP00000242839.5:n.3556+33_3556+34del | |
| ENST00000344297.9:c.2935+33_2935+34del | ENSP00000342559.5:n.2935+33_2935+34del | |
| ENST00000400366.6:c.3223+33_3223+34del | ENSP00000383217.3:n.3223+33_3223+34del | |
| ENST00000448424.7:c.3304+33_3304+34del | ENSP00000416738.3:n.3304+33_3304+34del | |
| ENST00000673772.1:c.3322+33_3322+34del | ENSP00000501168.1:n.3322+33_3322+34del | |
| ENST00000673867.1:n.3695+33_3695+34del | ||
| ENST00000674126.1:n.3952_3953del | ||
| ENST00000674147.1:c.2491+33_2491+34del | ENSP00000500964.1:n.2491+33_2491+34del | |
| ENST00000242839.8:c.3556+33_3556+34del | ENSP00000242839.4:n.3556+33_3556+34del | |
| ENST00000344297.8:c.2935+33_2935+34del | ENSP00000342559.5:n.2935+33_2935+34del | |
| ENST00000400366.5:c.3223+33_3223+34del | ENSP00000383217.3:n.3223+33_3223+34del | |
| ENST00000400370.8:c.2266+33_2266+34del | ENSP00000383221.3:n.2266+33_2266+34del | |
| ENST00000418097.7:c.3361+33_3361+34del | ENSP00000393343.2:n.3361+33_3361+34del | |
| ENST00000448424.6:c.3322+33_3322+34del | ENSP00000416738.2:n.3322+33_3322+34del | |
| ENST00000634296.1:c.1334+33_1334+34del | ||
| ENST00000634308.1:c.*657+33_*657+34del | ENSP00000489234.1:n.*657+33_*657+34del | |
| ENST00000634620.1:n.4300+33_4300+34del | ||
| ENST00000634810.1:n.2901+33_2901+34del | ||
| ENST00000634844.1:c.3412+33_3412+34del | ENSP00000489398.1:n.3412+33_3412+34del | |
| NM_000053.3:c.3556+33_3556+34del | NP_000044.2:n.3556+33_3556+34del | |
| NM_001005918.2:c.2935+33_2935+34del | NP_001005918.1:n.2935+33_2935+34del | |
| NM_001243182.1:c.3223+33_3223+34del | NP_001230111.1:n.3223+33_3223+34del | |
| XM_005266423.2:c.3460+33_3460+34del | XP_005266480.1:n.3460+33_3460+34del | |
| XM_005266424.3:c.3460+33_3460+34del | XP_005266481.1:n.3460+33_3460+34del | |
| XM_005266427.2:c.3322+33_3322+34del | XP_005266484.1:n.3322+33_3322+34del | |
| XM_005266428.1:c.3304+33_3304+34del | XP_005266485.1:n.3304+33_3304+34del | |
| XM_005266430.3:c.3556+33_3556+34del | XP_005266487.1:n.3556+33_3556+34del | |
| XM_005266431.2:c.3520+33_3520+34del | XP_005266488.1:n.3520+33_3520+34del | |
| XM_005266432.2:c.3070+33_3070+34del | XP_005266489.1:n.3070+33_3070+34del | |
| XM_006719837.2:c.3460+33_3460+34del | XP_006719900.1:n.3460+33_3460+34del | |
| XM_006719838.1:c.1372+33_1372+34del | XP_006719901.1:n.1372+33_1372+34del | |
| XM_006719839.1:c.1189+33_1189+34del | XP_006719902.1:n.1189+33_1189+34del | |
| XM_011535117.1:c.3460+33_3460+34del | XP_011533419.1:n.3460+33_3460+34del | |
| XM_011535118.1:c.3421+33_3421+34del | XP_011533420.1:n.3421+33_3421+34del | |
| XM_011535119.1:c.3373+33_3373+34del | XP_011533421.1:n.3373+33_3373+34del | |
| XM_011535120.1:c.3142+33_3142+34del | XP_011533422.1:n.3142+33_3142+34del | |
| XM_011535121.1:c.3043+33_3043+34del | XP_011533423.1:n.3043+33_3043+34del | |
| XM_011535122.1:c.2224+33_2224+34del | XP_011533424.1:n.2224+33_2224+34del | |
| XR_941601.1:n.3775+33_3775+34del | ||
| XR_941602.1:n.3775+33_3775+34del | ||
| XR_941603.1:n.3775+33_3775+34del | ||
| XR_941604.1:n.3775+33_3775+34del | ||
| NM_001330578.1:c.3322+33_3322+34del | NP_001317507.1:n.3322+33_3322+34del | |
| NM_001330579.1:c.3304+33_3304+34del | NP_001317508.1:n.3304+33_3304+34del | |
| XM_005266424.4:c.3460+33_3460+34del | XP_005266481.1:n.3460+33_3460+34del | |
| XM_005266430.4:c.3556+33_3556+34del | XP_005266487.1:n.3556+33_3556+34del | |
| XM_005266431.4:c.3520+33_3520+34del | XP_005266488.1:n.3520+33_3520+34del | |
| XM_006719837.3:c.3460+33_3460+34del | XP_006719900.1:n.3460+33_3460+34del | |
| XM_011535117.3:c.3460+33_3460+34del | XP_011533419.1:n.3460+33_3460+34del | |
| XM_017020627.1:c.3460+33_3460+34del | XP_016876116.1:n.3460+33_3460+34del | |
| NM_000053.4:c.3556+33_3556+34del MANE Select | NP_000044.2:n.3556+33_3556+34del | |
| NM_001005918.3:c.2935+33_2935+34del | NP_001005918.1:n.2935+33_2935+34del | |
| NM_001330579.2:c.3304+33_3304+34del | NP_001317508.1:n.3304+33_3304+34del | |
| NM_001243182.2:c.3223+33_3223+34del | NP_001230111.1:n.3223+33_3223+34del | |
| NM_001330578.2:c.3322+33_3322+34del | NP_001317507.1:n.3322+33_3322+34del |