Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44288260_44288261del , CM000683.2:g.44288260_44288261del | GRCh38 |
| NC_000021.8:g.45708143_45708144del , CM000683.1:g.45708143_45708144del | GRCh37 |
| NC_000021.7:g.44532571_44532572del | NCBI36 |
| NG_009556.1:g.7381_7382del , LRG_18:g.7381_7382del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291582.6:c.539-85_539-84del MANE Select | ENSP00000291582.5:n.539-85_539-84del | |
| ENST00000291582.5:c.539-85_539-84del | ENSP00000291582.5:n.539-85_539-84del | |
| ENST00000527919.5:n.1083-85_1083-84del | ||
| ENST00000530812.5:n.1091-85_1091-84del | ||
| NM_000383.3:c.539-85_539-84del | NP_000374.1:n.539-85_539-84del | |
| XM_011529551.1:c.539-85_539-84del | XP_011527853.1:n.539-85_539-84del | |
| NM_000383.4:c.539-85_539-84del MANE Select | NP_000374.1:n.539-85_539-84del |