Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44288466_44288501del , CM000683.2:g.44288466_44288501del | GRCh38 |
| NC_000021.8:g.45708349_45708384del , CM000683.1:g.45708349_45708384del | GRCh37 |
| NC_000021.7:g.44532777_44532812del | NCBI36 |
| NG_009556.1:g.7587_7622del , LRG_18:g.7587_7622del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291582.6:c.652+8_652+43del MANE Select | ENSP00000291582.5:n.652+8_652+43del | |
| ENST00000291582.5:c.652+8_652+43del | ENSP00000291582.5:n.652+8_652+43del | |
| ENST00000527919.5:n.1196+8_1196+43del | ||
| ENST00000530812.5:n.1212_1247del | ||
| NM_000383.3:c.652+8_652+43del | NP_000374.1:n.652+8_652+43del | |
| XM_011529551.1:c.652+8_652+43del | XP_011527853.1:n.652+8_652+43del | |
| NM_000383.4:c.652+8_652+43del MANE Select | NP_000374.1:n.652+8_652+43del |