Linked Data
dbSNP Id:
rs1426821288
gnomAD v2:
21-45708176-CT-C
gnomAD v3:
21-44288293-CT-C
gnomAD v4:
21-44288293-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44288295del , CM000683.2:g.44288295del | GRCh38 |
| NC_000021.8:g.45708178del , CM000683.1:g.45708178del | GRCh37 |
| NC_000021.7:g.44532606del | NCBI36 |
| NG_009556.1:g.7416del , LRG_18:g.7416del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291582.6:c.539-50del MANE Select | ENSP00000291582.5:n.539-50del | |
| ENST00000291582.5:c.539-50del | ENSP00000291582.5:n.539-50del | |
| ENST00000527919.5:n.1083-50del | ||
| ENST00000530812.5:n.1091-50del | ||
| NM_000383.3:c.539-50del | NP_000374.1:n.539-50del | |
| XM_011529551.1:c.539-50del | XP_011527853.1:n.539-50del | |
| NM_000383.4:c.539-50del MANE Select | NP_000374.1:n.539-50del |