Linked Data
dbSNP Id:
rs1478367641
gnomAD v2:
5-33530457-TG-T
gnomAD v3:
5-33530352-TG-T
gnomAD v4:
5-33530352-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.33530355del , CM000667.2:g.33530355del | GRCh38 |
| NC_000005.9:g.33530460del , CM000667.1:g.33530460del | GRCh37 |
| NC_000005.8:g.33566217del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504830.6:c.4607-2987del MANE Select | ENSP00000422554.1:n.4607-2987del | |
| ENST00000352040.7:c.4352-2987del | ENSP00000344847.3:n.4352-2987del | |
| ENST00000504830.5:c.4607-2987del | ENSP00000422554.1:n.4607-2987del | |
| NM_030955.2:c.4607-2987del | NP_112217.2:n.4607-2987del | |
| XM_011514145.1:c.3836-2987del | XP_011512447.1:n.3836-2987del | |
| XM_011514147.1:c.2693-2987del | XP_011512449.1:n.2693-2987del | |
| NM_001324512.1:c.4352-2987del | NP_001311441.1:n.4352-2987del | |
| NM_030955.3:c.4607-2987del | NP_112217.2:n.4607-2987del | |
| XM_017009905.1:c.4718-2987del | XP_016865394.1:n.4718-2987del | |
| XM_017009906.1:c.4226-2987del | XP_016865395.1:n.4226-2987del | |
| XM_017009907.1:c.3161-2987del | XP_016865396.1:n.3161-2987del | |
| XM_017009908.1:c.2804-2987del | XP_016865397.1:n.2804-2987del | |
| XM_017009909.1:c.2792-2987del | XP_016865398.1:n.2792-2987del | |
| NM_030955.4:c.4607-2987del MANE Select | NP_112217.2:n.4607-2987del | |
| NM_001324512.2:c.4352-2987del | NP_001311441.1:n.4352-2987del |