Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013554_25013556del , CM000685.2:g.25013554_25013556del | GRCh38 |
| NC_000023.10:g.25031671_25031673del , CM000685.1:g.25031671_25031673del | GRCh37 |
| NC_000023.9:g.24941592_24941594del | NCBI36 |
| NG_008281.1:g.7395_7397del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.441_443del MANE Select | ENSP00000368332.4:p.Ala148del | |
| ENST00000379044.4:c.441_443del | ENSP00000368332.4:p.Ala148del | |
| NM_139058.2:c.441_443del | NP_620689.1:p.Ala148del | |
| NM_139058.3:c.441_443del MANE Select | NP_620689.1:p.Ala148del |