Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013528_25013557del , CM000685.2:g.25013528_25013557del | GRCh38 |
| NC_000023.10:g.25031645_25031674del , CM000685.1:g.25031645_25031674del | GRCh37 |
| NC_000023.9:g.24941566_24941595del | NCBI36 |
| NG_008281.1:g.7394_7423del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.440_469del MANE Select | ENSP00000368332.4:p.Ala147_Trp156del | |
| ENST00000379044.4:c.440_469del | ENSP00000368332.4:p.Ala147_Trp156del | |
| NM_139058.2:c.440_469del | NP_620689.1:p.Ala147_Trp156del | |
| NM_139058.3:c.440_469del MANE Select | NP_620689.1:p.Ala147_Trp156del |