Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218814242_218814244del , CM000664.2:g.218814242_218814244del | GRCh38 |
| NC_000002.11:g.219678965_219678967del , CM000664.1:g.219678965_219678967del | GRCh37 |
| NC_000002.10:g.219387209_219387211del | NCBI36 |
| NG_007959.1:g.37494_37496del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258415.9:c.1184+55_1184+57del MANE Select | ENSP00000258415.4:n.1184+55_1184+57del | |
| ENST00000258415.8:c.1184+55_1184+57del | ENSP00000258415.4:n.1184+55_1184+57del | |
| ENST00000494263.5:n.1673_1675del | ||
| NM_000784.3:c.1184+55_1184+57del | NP_000775.1:n.1184+55_1184+57del | |
| XM_017003488.2:c.764+55_764+57del | XP_016858977.1:n.764+55_764+57del | |
| NM_000784.4:c.1184+55_1184+57del MANE Select | NP_000775.1:n.1184+55_1184+57del |