Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25004895del , CM000685.2:g.25004895del | GRCh38 |
| NC_000023.10:g.25023012del , CM000685.1:g.25023012del | GRCh37 |
| NC_000023.9:g.24932933del | NCBI36 |
| NG_008281.1:g.16055del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_139058.3:c.1465del MANE Select | NP_620689.1:p.Ala489ProfsTer3 |
| ENST00000379044.5:c.1465del MANE Select | ENSP00000368332.4:p.Ala489ProfsTer3 |
| NM_139058.2:c.1465del | NP_620689.1:p.Ala489ProfsTer3 |
| ENST00000379044.4:c.1465del | ENSP00000368332.4:p.Ala489ProfsTer3 |
| ENST00000636885.1:n.53del |