Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44289712_44289713del , CM000683.2:g.44289712_44289713del | GRCh38 |
| NC_000021.8:g.45709595_45709596del , CM000683.1:g.45709595_45709596del | GRCh37 |
| NC_000021.7:g.44534023_44534024del | NCBI36 |
| NG_009556.1:g.8833_8834del , LRG_18:g.8833_8834del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291582.6:c.708_709del MANE Select | ENSP00000291582.5:p.Phe236LeufsTer? | |
| ENST00000291582.5:c.708_709del | ENSP00000291582.5:p.Phe236LeufsTer? | |
| ENST00000527919.5:n.1441_1442del | ||
| ENST00000530812.5:n.2458_2459del | ||
| NM_000383.3:c.708_709del | NP_000374.1:p.Phe236LeufsTer? | |
| XM_011529551.1:c.708_709del | XP_011527853.1:p.Phe236LeufsTer? | |
| NM_000383.4:c.708_709del MANE Select | NP_000374.1:p.Phe236LeufsTer? |