Linked Data
dbSNP Id:
rs199473679
ExAC:
17:8133263 AAAC / A
gnomAD v2:
17-8133263-AAAC-A
gnomAD v3:
17-8229945-AAAC-A
gnomAD v4:
17-8229945-AAAC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8229951_8229953del , CM000679.2:g.8229951_8229953del | GRCh38 |
| NC_000017.10:g.8133269_8133271del , CM000679.1:g.8133269_8133271del | GRCh37 |
| NC_000017.9:g.8073994_8073996del | NCBI36 |
| NG_032148.1:g.23148_23150del | |
| NG_032148.2:g.23148_23150del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000580299.2:c.2954_2956del | ENSP00000462607.2:p.Cys985del | |
| ENST00000581729.2:c.2954_2956del | ENSP00000462720.2:p.Cys985del | |
| ENST00000581967.2:n.3406_3408del | ||
| ENST00000583254.2:n.4952_4954del | ||
| ENST00000699849.1:c.2057_2059del | ENSP00000514647.1:p.Cys686del | |
| ENST00000699850.1:n.2542_2544del | ||
| ENST00000699851.1:n.3301_3303del | ||
| ENST00000699852.1:c.*1532_*1534del | ENSP00000514648.1:n.*1532_*1534del | |
| ENST00000699853.1:c.2954_2956del | ENSP00000514649.1:p.Cys985del | |
| ENST00000699854.1:n.3072_3074del | ||
| ENST00000699855.1:n.3731_3733del | ||
| ENST00000699856.1:c.2934-26_2934-24del | ENSP00000514650.1:n.2934-26_2934-24del | |
| ENST00000699857.1:n.3189_3191del | ||
| ENST00000699858.1:c.*1892_*1894del | ENSP00000514651.1:n.*1892_*1894del | |
| ENST00000699859.1:c.2825_2827del | ENSP00000514652.1:p.Cys942del | |
| ENST00000699860.1:n.1191_1193del | ||
| ENST00000699861.1:n.2976_2978del | ||
| ENST00000699862.1:n.4239_4241del | ||
| ENST00000449476.7:c.2849_2851del | ENSP00000396018.2:p.Cys950del | |
| ENST00000581671.2:n.2943_2945del | ||
| ENST00000643543.1:c.*1661_*1663del | ENSP00000494323.1:n.*1661_*1663del | |
| ENST00000651323.1:c.2954_2956del MANE Select | ENSP00000498499.1:p.Cys985del | |
| ENST00000315684.12:c.2954_2956del | ENSP00000313759.8:p.Cys985del | |
| ENST00000449476.6:c.2849_2851del | ENSP00000396018.2:p.Cys950del | |
| ENST00000578240.1:n.1507_1509del | ||
| ENST00000578441.5:n.337-26_337-24del | ||
| ENST00000578537.1:c.636-26_636-24del | ||
| ENST00000580299.1:c.125_127del | ENSP00000462607.1:p.Cys42del | |
| NM_025099.5:c.2954_2956del | NP_079375.3:p.Cys985del | |
| NR_046431.1:n.2908_2910del | ||
| XM_006721577.2:c.2825_2827del | XP_006721640.1:p.Cys942del | |
| XM_006721578.2:c.2954_2956del | XP_006721641.1:p.Cys985del | |
| XM_006721579.2:c.2934-26_2934-24del | XP_006721642.1:n.2934-26_2934-24del | |
| XM_011524010.1:c.2849_2851del | XP_011522312.1:p.Cys950del | |
| XM_011524011.1:c.2057_2059del | XP_011522313.1:p.Cys686del | |
| XR_429823.2:n.2997_2999del | ||
| XR_429824.2:n.2997_2999del | ||
| XR_429825.1:n.2803_2805del | ||
| NM_025099.6:c.2954_2956del MANE Select | NP_079375.3:p.Cys985del | |
| XM_006721577.3:c.2825_2827del | XP_006721640.1:p.Cys942del | |
| XM_006721578.3:c.2954_2956del | XP_006721641.1:p.Cys985del | |
| XM_011524010.2:c.2849_2851del | XP_011522312.1:p.Cys950del | |
| XM_011524011.2:c.2057_2059del | XP_011522313.1:p.Cys686del | |
| XR_001752639.1:n.2868_2870del | ||
| XR_001752640.1:n.2977-26_2977-24del | ||
| XR_001752641.1:n.2977-26_2977-24del | ||
| XR_001752642.1:n.2803_2805del | ||
| XR_001752643.1:n.3427_3429del | ||
| XR_002958073.1:n.2803_2805del | ||
| XR_429823.3:n.2997_2999del | ||
| XR_429824.3:n.2997_2999del | ||
| NR_046431.2:n.2869_2871del |