Linked Data
dbSNP Id:
rs1432733065
gnomAD v2:
6-32008812-G-GC
gnomAD v3:
6-32041035-G-GC
gnomAD v4:
6-32041035-G-GC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32041039dup , CM000668.2:g.32041039dup | GRCh38 |
| NC_000006.11:g.32008816dup , CM000668.1:g.32008816dup | GRCh37 |
| NC_000006.10:g.32116795dup | NCBI36 |
| NG_007941.2:g.7732dup | |
| NG_008337.2:g.73339dup | |
| NG_007941.3:g.7735dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644719.2:c.1393dup MANE Select | ENSP00000496625.1:p.Leu465ProfsTer? | |
| ENST00000418967.6:c.1393dup | ENSP00000408860.2:p.Leu465ProfsTer? | |
| ENST00000435122.3:c.1303dup | ENSP00000415043.2:p.Leu435ProfsTer? | |
| ENST00000479074.5:n.1534dup | ||
| ENST00000479730.5:n.1509dup | ||
| ENST00000483041.5:n.1562dup | ||
| ENST00000486063.5:n.1372dup | ||
| NM_000500.7:c.1393dup | NP_000491.4:p.Leu465ProfsTer? | |
| NM_001128590.3:c.1303dup | NP_001122062.3:p.Leu435ProfsTer? | |
| XM_011514314.1:c.988dup | XP_011512616.1:p.Leu330ProfsTer? | |
| NM_000500.9:c.1393dup MANE Select | NP_000491.4:p.Leu465ProfsTer? | |
| NM_001368143.1:c.988dup | NP_001355072.1:p.Leu330ProfsTer? | |
| NM_001368144.1:c.988dup | NP_001355073.1:p.Leu330ProfsTer? | |
| NM_001128590.4:c.1303dup | NP_001122062.3:p.Leu435ProfsTer? | |
| NM_001368143.2:c.988dup | NP_001355072.1:p.Leu330ProfsTer? | |
| NM_001368144.2:c.988dup | NP_001355073.1:p.Leu330ProfsTer? |