Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31269323del , CM000668.2:g.31269323del | GRCh38 |
| NC_000006.11:g.31237100del , CM000668.1:g.31237100del | GRCh37 |
| NC_000006.10:g.31345079del | NCBI36 |
| NG_029422.2:g.7809del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.1096+15del MANE Select | ENSP00000365402.5:n.1096+15del | |
| ENST00000376228.9:c.1096+15del | ENSP00000365402.5:n.1096+15del | |
| ENST00000376237.8:c.*683+15del | ENSP00000365412.4:n.*683+15del | |
| ENST00000383329.7:c.1114+15del | ENSP00000372819.3:n.1114+15del | |
| ENST00000466892.5:n.329+15del | ||
| ENST00000470363.5:n.854+15del | ||
| ENST00000487245.5:n.1455+15del | ||
| NM_002117.5:c.1096+15del | NP_002108.4:n.1096+15del | |
| NM_002117.6:c.1096+15del MANE Select | NP_002108.4:n.1096+15del |