Linked Data
dbSNP Id:
rs1440662152
gnomAD v2:
6-32008704-CG-C
gnomAD v3:
6-32040927-CG-C
gnomAD v4:
6-32040927-CG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32040928del , CM000668.2:g.32040928del | GRCh38 |
| NC_000006.11:g.32008705del , CM000668.1:g.32008705del | GRCh37 |
| NC_000006.10:g.32116684del | NCBI36 |
| NG_007941.2:g.7621del | |
| NG_008337.2:g.73447del | |
| NG_007941.3:g.7624del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000644719.2:c.1282del MANE Select | ENSP00000496625.1:p.Val428CysfsTer16 | |
| ENST00000418967.6:c.1282del | ENSP00000408860.2:p.Val428CysfsTer16 | |
| ENST00000435122.3:c.1192del | ENSP00000415043.2:p.Val398CysfsTer16 | |
| ENST00000479074.5:n.1423del | ||
| ENST00000479730.5:n.1398del | ||
| ENST00000483041.5:n.1451del | ||
| ENST00000486063.5:n.1261del | ||
| NM_000500.7:c.1282del | NP_000491.4:p.Val428CysfsTer16 | |
| NM_001128590.3:c.1192del | NP_001122062.3:p.Val398CysfsTer16 | |
| XM_011514314.1:c.877del | XP_011512616.1:p.Val293CysfsTer16 | |
| NM_000500.9:c.1282del MANE Select | NP_000491.4:p.Val428CysfsTer16 | |
| NM_001368143.1:c.877del | NP_001355072.1:p.Val293CysfsTer16 | |
| NM_001368144.1:c.877del | NP_001355073.1:p.Val293CysfsTer16 | |
| NM_001128590.4:c.1192del | NP_001122062.3:p.Val398CysfsTer16 | |
| NM_001368143.2:c.877del | NP_001355072.1:p.Val293CysfsTer16 | |
| NM_001368144.2:c.877del | NP_001355073.1:p.Val293CysfsTer16 |