Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.2787622_2787623del , CM000686.2:g.2787622_2787623del | GRCh38 |
| NC_000024.9:g.2655663_2655664del , CM000686.1:g.2655663_2655664del | GRCh37 |
| NC_000024.8:g.2715663_2715664del | NCBI36 |
| NG_011751.1:g.5130_5131del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000679518.1:n.106+12883_106+12884del | ||
| ENST00000680285.1:n.320-2127_320-2126del | ||
| ENST00000680845.1:n.308_309del | ||
| ENST00000681787.1:n.106+12883_106+12884del | ||
| ENST00000681940.1:n.106+12883_106+12884del | ||
| ENST00000383070.2:c.-19_-18del MANE Select | ENSP00000372547.1:n.-19_-18del | |
| ENST00000383070.1:c.-19_-18del | ENSP00000372547.1:n.-19_-18del | |
| NM_003140.2:c.-19_-18del | NP_003131.1:n.-19_-18del | |
| NM_003140.3:c.-19_-18del MANE Select | NP_003131.1:n.-19_-18del |