Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12887033_12887046del , CM000681.2:g.12887033_12887046del | GRCh38 |
| NC_000019.9:g.12997847_12997860del , CM000681.1:g.12997847_12997860del | GRCh37 |
| NC_000019.8:g.12858847_12858860del | NCBI36 |
| NG_009292.1:g.874_887del | |
| NG_013087.1:g.5162_5175del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264834.6:c.87+12_87+25del MANE Select | ENSP00000264834.3:n.87+12_87+25del | |
| ENST00000264834.4:c.87+12_87+25del | ENSP00000264834.3:n.87+12_87+25del | |
| NM_006563.3:c.87+12_87+25del | NP_006554.1:n.87+12_87+25del | |
| XM_011527642.1:c.-117+12_-117+25del | XP_011525944.1:n.-117+12_-117+25del | |
| NM_006563.4:c.87+12_87+25del | NP_006554.1:n.87+12_87+25del | |
| XM_011527642.2:c.-117+12_-117+25del | XP_011525944.1:n.-117+12_-117+25del | |
| NM_006563.5:c.87+12_87+25del MANE Select | NP_006554.1:n.87+12_87+25del |