Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18785659del , CM000681.2:g.18785659del | GRCh38 |
| NC_000019.9:g.18896469del , CM000681.1:g.18896469del | GRCh37 |
| NC_000019.8:g.18757469del | NCBI36 |
| NG_007070.1:g.10647del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1668+15del MANE Select | ENSP00000222271.2:n.1668+15del | |
| ENST00000222271.6:c.1668+15del | ENSP00000222271.2:n.1668+15del | |
| ENST00000425807.1:c.1509+15del | ENSP00000403792.1:n.1509+15del | |
| ENST00000542601.6:c.1569+15del | ENSP00000439156.2:n.1569+15del | |
| NM_000095.2:c.1668+15del | NP_000086.2:n.1668+15del | |
| NM_000095.3:c.1668+15del MANE Select | NP_000086.2:n.1668+15del |