Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44296392del , CM000683.2:g.44296392del | GRCh38 |
| NC_000021.8:g.45716275del , CM000683.1:g.45716275del | GRCh37 |
| NC_000021.7:g.44540703del | NCBI36 |
| NG_009556.1:g.15513del , LRG_18:g.15513del | |
| NG_034033.1:g.1359del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291582.6:c.1513del MANE Select | ENSP00000291582.5:p.Ala505ProfsTer16 | |
| ENST00000291582.5:c.1513del | ENSP00000291582.5:p.Ala505ProfsTer16 | |
| ENST00000337909.5:n.974del | ||
| ENST00000397994.8:n.892del | ||
| ENST00000527919.5:n.2272del | ||
| ENST00000530812.5:n.3260del | ||
| NM_000383.3:c.1513del | NP_000374.1:p.Ala505ProfsTer16 | |
| XM_011529551.1:c.1510del | XP_011527853.1:p.Ala504ProfsTer16 | |
| NM_000383.4:c.1513del MANE Select | NP_000374.1:p.Ala505ProfsTer16 |