Linked Data
ClinVar Variation Id:
1685686
ClinVar RCV Id:
RCV002249853
dbSNP Id:
rs267606756
gnomAD v4:
6-32040182-GT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32040189del , CM000668.2:g.32040189del | GRCh38 |
| NC_000006.11:g.32007966del , CM000668.1:g.32007966del | GRCh37 |
| NC_000006.10:g.32115945del | NCBI36 |
| NG_007941.2:g.6882del | |
| NG_008337.2:g.74192del | |
| NG_007941.3:g.6885del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000644719.2:c.923del MANE Select | ENSP00000496625.1:p.Leu308CysfsTer15 | |
| ENST00000418967.6:c.923del | ENSP00000408860.2:p.Leu308CysfsTer15 | |
| ENST00000435122.3:c.833del | ENSP00000415043.2:p.Leu278CysfsTer15 | |
| ENST00000479074.5:n.981del | ||
| ENST00000479730.5:n.1039del | ||
| ENST00000483041.5:n.1092del | ||
| ENST00000486063.5:n.919-217del | ||
| NM_000500.7:c.923del | NP_000491.4:p.Leu308CysfsTer15 | |
| NM_001128590.3:c.833del | NP_001122062.3:p.Leu278CysfsTer15 | |
| XM_011514314.1:c.518del | XP_011512616.1:p.Leu173CysfsTer15 | |
| NM_000500.9:c.923del MANE Select | NP_000491.4:p.Leu308CysfsTer15 | |
| NM_001368143.1:c.518del | NP_001355072.1:p.Leu173CysfsTer15 | |
| NM_001368144.1:c.518del | NP_001355073.1:p.Leu173CysfsTer15 | |
| NM_001128590.4:c.833del | NP_001122062.3:p.Leu278CysfsTer15 | |
| NM_001368143.2:c.518del | NP_001355072.1:p.Leu173CysfsTer15 | |
| NM_001368144.2:c.518del | NP_001355073.1:p.Leu173CysfsTer15 |