Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173445_173453del , CM000678.2:g.173445_173453del | GRCh38 |
| NC_000016.9:g.223444_223452del , CM000678.1:g.223444_223452del | GRCh37 |
| NC_000016.8:g.163444_163452del | NCBI36 |
| NG_000006.1:g.34308_34316del | |
| NG_059186.1:g.1795_1803del | |
| NG_059271.1:g.5599_5607del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.301-27_301-19del MANE Select | ENSP00000251595.6:n.301-27_301-19del | |
| ENST00000251595.10:c.301-27_301-19del | ENSP00000251595.6:n.301-27_301-19del | |
| ENST00000397806.1:c.205-27_205-19del | ENSP00000380908.1:n.205-27_205-19del | |
| ENST00000482565.1:n.437-27_437-19del | ||
| ENST00000484216.1:n.385_393del | ||
| NM_000517.4:c.301-27_301-19del | NP_000508.1:n.301-27_301-19del | |
| NM_000517.6:c.301-27_301-19del MANE Select | NP_000508.1:n.301-27_301-19del |