Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.132785721del , CM000672.2:g.132785721del | GRCh38 |
| NC_000010.10:g.134599225del , CM000672.1:g.134599225del | GRCh37 |
| NC_000010.9:g.134449215del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_177400.3:c.234del MANE Select | NP_796374.2:p.Leu79CysfsTer? |
| ENST00000368592.8:c.234del MANE Select | ENSP00000357581.5:p.Leu79CysfsTer? |
| NM_177400.2:c.234del | NP_796374.1:p.Leu79CysfsTer? |
| ENST00000368592.7:c.234del | ENSP00000357581.5:p.Leu79CysfsTer? |
| XM_017016789.2:c.234del | XP_016872278.1:p.Leu79CysfsTer? |