Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.83509177_83509178del , CM000685.2:g.83509177_83509178del | GRCh38 |
| NC_000023.10:g.82764185_82764186del , CM000685.1:g.82764185_82764186del | GRCh37 |
| NC_000023.9:g.82650841_82650842del | NCBI36 |
| NG_009936.2:g.5917_5918del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644024.2:c.853_854del MANE Select | ENSP00000495996.1:p.Ile285ArgfsTer? | |
| ENST00000373200.4:c.853_854del | ENSP00000362296.2:p.Ile285ArgfsTer? | |
| NM_000307.4:c.853_854del | NP_000298.3:p.Ile285ArgfsTer? | |
| NM_000307.5:c.853_854del MANE Select | NP_000298.3:p.Ile285ArgfsTer? |