Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94029453_94029478del , CM000663.2:g.94029453_94029478del | GRCh38 |
| NC_000001.10:g.94495009_94495034del , CM000663.1:g.94495009_94495034del | GRCh37 |
| NC_000001.9:g.94267597_94267622del | NCBI36 |
| NG_009073.1:g.96676_96701del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.4510_4535del MANE Select | ENSP00000359245.3:p.Glu1504ProfsTer? | |
| ENST00000370225.3:c.4510_4535del | ENSP00000359245.3:p.Glu1504ProfsTer? | |
| ENST00000536513.5:c.886_911del | ENSP00000439707.2:p.Glu296ProfsTer? | |
| NM_000350.2:c.4510_4535del | NP_000341.2:p.Glu1504ProfsTer? | |
| NM_000350.3:c.4510_4535del MANE Select | NP_000341.2:p.Glu1504ProfsTer? |