Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86739901_86739902del , CM000670.2:g.86739901_86739902del | GRCh38 |
| NC_000008.10:g.87752129_87752130del , CM000670.1:g.87752129_87752130del | GRCh37 |
| NC_000008.9:g.87821245_87821246del | NCBI36 |
| NG_016980.1:g.8774_8775del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.130-166_130-165del MANE Select | ENSP00000316605.5:n.130-166_130-165del | |
| ENST00000681746.1:c.130-166_130-165del | ENSP00000505959.1:n.130-166_130-165del | |
| ENST00000320005.5:c.130-166_130-165del | ENSP00000316605.5:n.130-166_130-165del | |
| ENST00000519777.1:n.112-166_112-165del | ||
| NM_019098.4:c.130-166_130-165del | NP_061971.3:n.130-166_130-165del | |
| NM_019098.5:c.130-166_130-165del MANE Select | NP_061971.3:n.130-166_130-165del |