Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.133324569del , CM000685.2:g.133324569del | GRCh38 |
| NC_000023.10:g.132458597del , CM000685.1:g.132458597del | GRCh37 |
| NC_000023.9:g.132286263del | NCBI36 |
| NG_012498.1:g.95627del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370828.4:c.320-15del MANE Select | ENSP00000359864.3:n.320-15del | |
| ENST00000370828.3:c.320-15del | ENSP00000359864.3:n.320-15del | |
| NM_001448.2:c.320-15del | NP_001439.2:n.320-15del | |
| NM_001448.3:c.320-15del MANE Select | NP_001439.2:n.320-15del |