Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.76137787del , CM000679.2:g.76137787del | GRCh38 |
| NC_000017.10:g.74133868del , CM000679.1:g.74133868del | GRCh37 |
| NC_000017.9:g.71645463del | NCBI36 |
| NG_013345.1:g.8513del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001454.4:c.832del MANE Select | NP_001445.2:p.Leu278CysfsTer? |
| ENST00000322957.7:c.832del MANE Select | ENSP00000323880.4:p.Leu278CysfsTer? |
| NM_001454.3:c.832del | NP_001445.2:p.Leu278CysfsTer? |
| ENST00000322957.6:c.832del | ENSP00000323880.4:p.Leu278CysfsTer? |