Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215817331_215817332del , CM000663.2:g.215817331_215817332del | GRCh38 |
| NC_000001.10:g.215990673_215990674del , CM000663.1:g.215990673_215990674del | GRCh37 |
| NC_000001.9:g.214057296_214057297del | NCBI36 |
| NG_009497.1:g.611069_611070del | |
| NG_009497.2:g.611121_611122del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.9372-133_9372-132del MANE Select | ENSP00000305941.3:n.9372-133_9372-132del | |
| ENST00000674083.1:c.9372-133_9372-132del | ENSP00000501296.1:n.9372-133_9372-132del | |
| ENST00000307340.7:c.9372-133_9372-132del | ENSP00000305941.3:n.9372-133_9372-132del | |
| NM_206933.2:c.9372-133_9372-132del | NP_996816.2:n.9372-133_9372-132del | |
| NM_206933.3:c.9372-133_9372-132del | NP_996816.2:n.9372-133_9372-132del | |
| NM_206933.4:c.9372-133_9372-132del MANE Select | NP_996816.3:n.9372-133_9372-132del |