Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.27751046del , CM000684.2:g.27751046del | GRCh38 |
| NC_000022.10:g.28147034del , CM000684.1:g.28147034del | GRCh37 |
| NC_000022.9:g.26477034del | NCBI36 |
| NG_023258.1:g.55454del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703102.1:n.358del | ||
| ENST00000302326.5:c.3833del MANE Select | ENSP00000304956.4:p.Leu1278CysfsTer? | |
| ENST00000302326.4:c.3833del | ENSP00000304956.4:p.Leu1278CysfsTer? | |
| ENST00000424656.1:c.186del | ||
| ENST00000497225.1:n.189del | ||
| NM_002430.2:c.3833del | NP_002421.3:p.Leu1278CysfsTer? | |
| NM_002430.3:c.3833del MANE Select | NP_002421.3:p.Leu1278CysfsTer? |