Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.4863077_4863082del , CM000666.2:g.4863077_4863082del | GRCh38 |
| NC_000004.11:g.4864804_4864809del , CM000666.1:g.4864804_4864809del | GRCh37 |
| NC_000004.10:g.4915705_4915710del | NCBI36 |
| NG_008121.1:g.8413_8418del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382723.5:c.846_851del MANE Select | ENSP00000372170.4:p.Leu283_Pro284del | |
| ENST00000382723.4:c.846_851del | ENSP00000372170.4:p.Leu283_Pro284del | |
| NM_002448.3:c.846_851del MANE Select | NP_002439.2:p.Leu283_Pro284del |