Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.130208449del , CM000673.2:g.130208449del | GRCh38 |
| NC_000011.9:g.130078344del , CM000673.1:g.130078344del | GRCh37 |
| NC_000011.8:g.129583554del | NCBI36 |
| NG_012132.1:g.53663del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_021978.4:c.2034del MANE Select | NP_068813.1:p.Leu678PhefsTer? |
| ENST00000278742.6:c.2034del MANE Select | ENSP00000278742.5:p.Leu678PhefsTer? |
| NM_021978.3:c.2034del | NP_068813.1:p.Leu678PhefsTer? |
| ENST00000278742.5:c.2034del | ENSP00000278742.5:p.Leu678PhefsTer? |