Linked Data
dbSNP Id:
rs760900241
ExAC:
6:32007849 GC / G
gnomAD v2:
6-32007849-GC-G
gnomAD v3:
6-32040072-GC-G
gnomAD v4:
6-32040072-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32040073del , CM000668.2:g.32040073del | GRCh38 |
| NC_000006.11:g.32007850del , CM000668.1:g.32007850del | GRCh37 |
| NC_000006.10:g.32115829del | NCBI36 |
| NG_007941.2:g.6766del | |
| NG_008337.2:g.74302del | |
| NG_007941.3:g.6769del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644719.2:c.807del MANE Select | ENSP00000496625.1:p.Ser269ArgfsTer22 | |
| ENST00000418967.6:c.807del | ENSP00000408860.2:p.Ser269ArgfsTer22 | |
| ENST00000435122.3:c.717del | ENSP00000415043.2:p.Ser239ArgfsTer22 | |
| ENST00000479074.5:n.865del | ||
| ENST00000479730.5:n.923del | ||
| ENST00000483041.5:n.976del | ||
| ENST00000486063.5:n.918+238del | ||
| NM_000500.7:c.807del | NP_000491.4:p.Ser269ArgfsTer22 | |
| NM_001128590.3:c.717del | NP_001122062.3:p.Ser239ArgfsTer22 | |
| XM_011514314.1:c.402del | XP_011512616.1:p.Ser134ArgfsTer22 | |
| NM_000500.9:c.807del MANE Select | NP_000491.4:p.Ser269ArgfsTer22 | |
| NM_001368143.1:c.402del | NP_001355072.1:p.Ser134ArgfsTer22 | |
| NM_001368144.1:c.402del | NP_001355073.1:p.Ser134ArgfsTer22 | |
| NM_001128590.4:c.717del | NP_001122062.3:p.Ser239ArgfsTer22 | |
| NM_001368143.2:c.402del | NP_001355072.1:p.Ser134ArgfsTer22 | |
| NM_001368144.2:c.402del | NP_001355073.1:p.Ser134ArgfsTer22 |