Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44288264_44288265del , CM000683.2:g.44288264_44288265del | GRCh38 |
| NC_000021.8:g.45708147_45708148del , CM000683.1:g.45708147_45708148del | GRCh37 |
| NC_000021.7:g.44532575_44532576del | NCBI36 |
| NG_009556.1:g.7385_7386del , LRG_18:g.7385_7386del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291582.6:c.539-81_539-80del MANE Select | ENSP00000291582.5:n.539-81_539-80del | |
| ENST00000291582.5:c.539-81_539-80del | ENSP00000291582.5:n.539-81_539-80del | |
| ENST00000527919.5:n.1083-81_1083-80del | ||
| ENST00000530812.5:n.1091-81_1091-80del | ||
| NM_000383.3:c.539-81_539-80del | NP_000374.1:n.539-81_539-80del | |
| XM_011529551.1:c.539-81_539-80del | XP_011527853.1:n.539-81_539-80del | |
| NM_000383.4:c.539-81_539-80del MANE Select | NP_000374.1:n.539-81_539-80del |