Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48045886del , CM000675.2:g.48045886del | GRCh38 |
| NC_000013.10:g.48620022del , CM000675.1:g.48620022del | GRCh37 |
| NC_000013.9:g.47518023del | NCBI36 |
| NG_047021.1:g.13320del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258662.3:c.*87del MANE Select | ENSP00000258662.1:n.*87del | |
| ENST00000258662.2:c.*87del | ENSP00000258662.1:n.*87del | |
| NM_018283.2:c.*87del | NP_060753.1:n.*87del | |
| NM_018283.3:c.*87del | NP_060753.1:n.*87del | |
| NR_136687.1:n.718+44del | ||
| NR_136688.1:n.675+87del | ||
| NM_018283.4:c.*87del MANE Select | NP_060753.1:n.*87del | |
| NR_136687.2:n.559+44del | ||
| NR_136688.2:n.516+87del |