Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86668104_86668107del , CM000670.2:g.86668104_86668107del | GRCh38 |
| NC_000008.10:g.87680332_87680335del , CM000670.1:g.87680332_87680335del | GRCh37 |
| NC_000008.9:g.87749448_87749451del | NCBI36 |
| NG_016980.1:g.80570_80573del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.556_559del MANE Select | ENSP00000316605.5:p.Arg186CysfsTer11 | |
| ENST00000681746.1:c.556_559del | ENSP00000505959.1:p.Arg186CysfsTer11 | |
| ENST00000320005.5:c.556_559del | ENSP00000316605.5:p.Arg186CysfsTer11 | |
| NM_019098.4:c.556_559del | NP_061971.3:p.Arg186CysfsTer11 | |
| XM_011517138.1:c.142_145del | XP_011515440.1:p.Arg48CysfsTer11 | |
| XM_011517138.2:c.142_145del | XP_011515440.1:p.Arg48CysfsTer11 | |
| NM_019098.5:c.556_559del MANE Select | NP_061971.3:p.Arg186CysfsTer11 |