Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.216070422_216070423del , CM000663.2:g.216070422_216070423del | GRCh38 |
| NC_000001.10:g.216243764_216243765del , CM000663.1:g.216243764_216243765del | GRCh37 |
| NC_000001.9:g.214310387_214310388del | NCBI36 |
| NG_009497.1:g.357974_357975del | |
| NG_009497.2:g.358026_358027del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.5858-131_5858-130del MANE Select | ENSP00000305941.3:n.5858-131_5858-130del | |
| ENST00000674083.1:c.5858-131_5858-130del | ENSP00000501296.1:n.5858-131_5858-130del | |
| ENST00000307340.7:c.5858-131_5858-130del | ENSP00000305941.3:n.5858-131_5858-130del | |
| NM_206933.2:c.5858-131_5858-130del | NP_996816.2:n.5858-131_5858-130del | |
| NM_206933.3:c.5858-131_5858-130del | NP_996816.2:n.5858-131_5858-130del | |
| NM_206933.4:c.5858-131_5858-130del MANE Select | NP_996816.3:n.5858-131_5858-130del |