Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44291182_44291194del , CM000683.2:g.44291182_44291194del | GRCh38 |
| NC_000021.8:g.45711065_45711077del , CM000683.1:g.45711065_45711077del | GRCh37 |
| NC_000021.7:g.44535493_44535505del | NCBI36 |
| NG_009556.1:g.10303_10315del , LRG_18:g.10303_10315del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000383.4:c.967_979del MANE Select | NP_000374.1:p.Leu323SerfsTer? |
| ENST00000291582.6:c.967_979del MANE Select | ENSP00000291582.5:p.Leu323SerfsTer? |
| NM_000383.3:c.967_979del | NP_000374.1:p.Leu323SerfsTer? |
| ENST00000291582.5:c.967_979del | ENSP00000291582.5:p.Leu323SerfsTer? |
| ENST00000337909.5:n.428_440del | |
| ENST00000397994.8:n.428_440del | |
| ENST00000527919.5:n.1697_1709del | |
| ENST00000530812.5:n.2714_2726del | |
| XM_011529551.1:c.964_976del | XP_011527853.1:p.Leu322SerfsTer? |