Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18787902_18787914del , CM000681.2:g.18787902_18787914del | GRCh38 |
| NC_000019.9:g.18898711_18898723del , CM000681.1:g.18898711_18898723del | GRCh37 |
| NC_000019.8:g.18759711_18759723del | NCBI36 |
| NG_007070.1:g.8392_8404del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.976-264_976-252del MANE Select | ENSP00000222271.2:n.976-264_976-252del | |
| ENST00000222271.6:c.976-264_976-252del | ENSP00000222271.2:n.976-264_976-252del | |
| ENST00000425807.1:c.817-264_817-252del | ENSP00000403792.1:n.817-264_817-252del | |
| ENST00000542601.6:c.877-264_877-252del | ENSP00000439156.2:n.877-264_877-252del | |
| NM_000095.2:c.976-264_976-252del | NP_000086.2:n.976-264_976-252del | |
| NM_000095.3:c.976-264_976-252del MANE Select | NP_000086.2:n.976-264_976-252del |