ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000553 (AMR)
Exomes Max Group AF
0.00000742 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.19657863_19657868del , CM000679.2:g.19657863_19657868del | GRCh38 |
| NC_000017.10:g.19561176_19561181del , CM000679.1:g.19561176_19561181del | GRCh37 |
| NC_000017.9:g.19501768_19501773del | NCBI36 |
| NG_007095.2:g.14113_14118del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000176643.11:c.798+1_798+6del MANE Select | ENSP00000176643.6:n.798+1_798+6del | |
| ENST00000395575.7:c.472-3264_472-3259del | ENSP00000378942.3:n.472-3264_472-3259del | |
| ENST00000472059.6:c.*356+1_*356+6del | ENSP00000458397.1:n.*356+1_*356+6del | |
| ENST00000581518.6:c.798+1_798+6del | ENSP00000461916.2:n.798+1_798+6del | |
| ENST00000582991.6:c.798+1_798+6del | ENSP00000464153.1:n.798+1_798+6del | |
| ENST00000671841.1:n.2477+1_2477+6del | ||
| ENST00000671878.1:c.798+1_798+6del | ENSP00000500516.1:n.798+1_798+6del | |
| ENST00000672059.1:n.1249+1_1249+6del | ||
| ENST00000672322.1:n.1870_1875del | ||
| ENST00000672357.1:c.798+1_798+6del | ENSP00000500092.1:n.798+1_798+6del | |
| ENST00000672465.1:c.798+1_798+6del | ENSP00000500517.1:n.798+1_798+6del | |
| ENST00000672487.1:c.680+1289_680+1294del | ENSP00000500740.1:n.680+1289_680+1294del | |
| ENST00000672564.1:n.1019+1_1019+6del | ||
| ENST00000672567.1:c.689+1_689+6del | ||
| ENST00000672608.1:n.1787+1_1787+6del | ||
| ENST00000672709.1:c.652+1_652+6del | ||
| ENST00000673136.1:c.798+1_798+6del | ENSP00000500380.1:n.798+1_798+6del | |
| ENST00000673472.1:n.1134+1_1134+6del | ||
| ENST00000176643.10:c.798+1_798+6del | ENSP00000176643.6:n.798+1_798+6del | |
| ENST00000339618.8:c.798+1_798+6del | ENSP00000345774.4:n.798+1_798+6del | |
| ENST00000395575.6:c.798+1_798+6del | ENSP00000378942.2:n.798+1_798+6del | |
| ENST00000472059.5:c.*356+1_*356+6del | ENSP00000458397.1:n.*356+1_*356+6del | |
| ENST00000476965.5:n.548+1_548+6del | ||
| ENST00000571537.1:c.291+1_291+6del | ENSP00000458942.1:n.291+1_291+6del | |
| ENST00000578696.1:c.229+1_229+6del | ||
| ENST00000579855.5:c.798+1_798+6del | ENSP00000463637.1:n.798+1_798+6del | |
| ENST00000581518.5:c.798+1_798+6del | ENSP00000461916.1:n.798+1_798+6del | |
| ENST00000582991.5:c.798+1_798+6del | ENSP00000464153.1:n.798+1_798+6del | |
| ENST00000630662.2:c.-184+1_-184+6del | ENSP00000487353.1:n.-184+1_-184+6del | |
| ENST00000631291.2:c.798+1_798+6del | ENSP00000486085.1:n.798+1_798+6del | |
| NM_000382.2:c.798+1_798+6del | NP_000373.1:n.798+1_798+6del | |
| NM_001031806.1:c.798+1_798+6del | NP_001026976.1:n.798+1_798+6del | |
| XM_011523732.1:c.798+1_798+6del | XP_011522034.1:n.798+1_798+6del | |
| XM_011523733.1:c.798+1_798+6del | XP_011522035.1:n.798+1_798+6del | |
| XM_011523733.2:c.798+1_798+6del | XP_011522035.1:n.798+1_798+6del | |
| XM_017024355.1:c.798+1_798+6del | XP_016879844.1:n.798+1_798+6del | |
| XM_017024356.2:c.798+1_798+6del | XP_016879845.1:n.798+1_798+6del | |
| XM_017024357.1:c.798+1_798+6del | XP_016879846.1:n.798+1_798+6del | |
| XM_017024358.2:c.798+1_798+6del | XP_016879847.1:n.798+1_798+6del | |
| XM_024450651.1:c.219+1_219+6del | XP_024306419.1:n.219+1_219+6del | |
| XM_024450652.1:c.219+1_219+6del | XP_024306420.1:n.219+1_219+6del | |
| NM_000382.3:c.798+1_798+6del MANE Select | NP_000373.1:n.798+1_798+6del | |
| NM_001031806.2:c.798+1_798+6del | NP_001026976.1:n.798+1_798+6del | |
| NM_001369136.1:c.798+1_798+6del | NP_001356065.1:n.798+1_798+6del | |
| NM_001369137.1:c.798+1_798+6del | NP_001356066.1:n.798+1_798+6del | |
| NM_001369138.1:c.798+1_798+6del | NP_001356067.1:n.798+1_798+6del | |
| NM_001369139.1:c.798+1_798+6del | NP_001356068.1:n.798+1_798+6del | |
| NM_001369146.1:c.798+1_798+6del | NP_001356075.1:n.798+1_798+6del | |
| NM_001369148.1:c.219+1_219+6del | NP_001356077.1:n.219+1_219+6del | |
| NM_001369137.2:c.798+1_798+6del | NP_001356066.1:n.798+1_798+6del | |
| NM_001369138.2:c.798+1_798+6del | NP_001356067.1:n.798+1_798+6del | |
| NM_001369146.2:c.798+1_798+6del | NP_001356075.1:n.798+1_798+6del | |
| NM_001369148.2:c.219+1_219+6del | NP_001356077.1:n.219+1_219+6del |