Linked Data
dbSNP Id:
rs777600732
ExAC:
13:52515215 ACC / A
gnomAD v2:
13-52515215-ACC-A
gnomAD v4:
13-51941079-ACC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51941080_51941081del , CM000675.2:g.51941080_51941081del | GRCh38 |
| NC_000013.10:g.52515216_52515217del , CM000675.1:g.52515216_52515217del | GRCh37 |
| NC_000013.9:g.51413217_51413218del | NCBI36 |
| NG_008806.1:g.75414_75415del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000634296.2:c.*1206_*1206+1del | ||
| ENST00000673864.2:c.*2300_*2300+1del | ||
| ENST00000674147.2:c.2935_2935+1del | ||
| ENST00000242839.10:c.3556_3556+1del | ||
| ENST00000344297.9:c.2935_2935+1del | ||
| ENST00000400366.6:c.3223_3223+1del | ||
| ENST00000448424.7:c.3304_3304+1del | ||
| ENST00000673772.1:c.3322_3322+1del | ||
| ENST00000673867.1:n.3695_3695+1del | ||
| ENST00000674126.1:n.3919_3920del | ||
| ENST00000674147.1:c.2491_2491+1del | ||
| ENST00000242839.8:c.3556_3556+1del | ||
| ENST00000344297.8:c.2935_2935+1del | ||
| ENST00000400366.5:c.3223_3223+1del | ||
| ENST00000400370.8:c.2266_2266+1del | ||
| ENST00000418097.7:c.3361_3361+1del | ||
| ENST00000448424.6:c.3322_3322+1del | ||
| ENST00000634296.1:c.1334_1334+1del | ||
| ENST00000634308.1:c.*657_*657+1del | ||
| ENST00000634620.1:n.4300_4300+1del | ||
| ENST00000634810.1:n.2901_2901+1del | ||
| ENST00000634844.1:c.3412_3412+1del | ||
| NM_000053.3:c.3556_3556+1del | ||
| NM_001005918.2:c.2935_2935+1del | ||
| NM_001243182.1:c.3223_3223+1del | ||
| XM_005266423.2:c.3460_3460+1del | ||
| XM_005266424.3:c.3460_3460+1del | ||
| XM_005266427.2:c.3322_3322+1del | ||
| XM_005266428.1:c.3304_3304+1del | ||
| XM_005266430.3:c.3556_3556+1del | ||
| XM_005266431.2:c.3520_3520+1del | ||
| XM_005266432.2:c.3070_3070+1del | ||
| XM_006719837.2:c.3460_3460+1del | ||
| XM_006719838.1:c.1372_1372+1del | ||
| XM_006719839.1:c.1189_1189+1del | ||
| XM_011535117.1:c.3460_3460+1del | ||
| XM_011535118.1:c.3421_3421+1del | ||
| XM_011535119.1:c.3373_3373+1del | ||
| XM_011535120.1:c.3142_3142+1del | ||
| XM_011535121.1:c.3043_3043+1del | ||
| XM_011535122.1:c.2224_2224+1del | ||
| XR_941601.1:n.3775_3775+1del | ||
| XR_941602.1:n.3775_3775+1del | ||
| XR_941603.1:n.3775_3775+1del | ||
| XR_941604.1:n.3775_3775+1del | ||
| NM_001330578.1:c.3322_3322+1del | ||
| NM_001330579.1:c.3304_3304+1del | ||
| XM_005266424.4:c.3460_3460+1del | ||
| XM_005266430.4:c.3556_3556+1del | ||
| XM_005266431.4:c.3520_3520+1del | ||
| XM_006719837.3:c.3460_3460+1del | ||
| XM_011535117.3:c.3460_3460+1del | ||
| XM_017020627.1:c.3460_3460+1del | ||
| NM_000053.4:c.3556_3556+1del | ||
| NM_001005918.3:c.2935_2935+1del | ||
| NM_001330579.2:c.3304_3304+1del | ||
| NM_001243182.2:c.3223_3223+1del | ||
| NM_001330578.2:c.3322_3322+1del |