Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.132785831del , CM000672.2:g.132785831del | GRCh38 |
| NC_000010.10:g.134599335del , CM000672.1:g.134599335del | GRCh37 |
| NC_000010.9:g.134449325del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368592.8:c.119del MANE Select | ENSP00000357581.5:p.Phe40SerfsTer? | |
| ENST00000368592.7:c.119del | ENSP00000357581.5:p.Phe40SerfsTer? | |
| NM_177400.2:c.119del | NP_796374.1:p.Phe40SerfsTer? | |
| XM_017016789.2:c.119del | XP_016872278.1:p.Phe40SerfsTer? | |
| NM_177400.3:c.119del MANE Select | NP_796374.2:p.Phe40SerfsTer? |