gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.60371520_60371521del , CM000680.2:g.60371520_60371521del | GRCh38 |
| NC_000018.9:g.58038753_58038754del , CM000680.1:g.58038753_58038754del | GRCh37 |
| NC_000018.8:g.56189733_56189734del | NCBI36 |
| NG_016441.1:g.6254_6255del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299766.5:c.835_836del MANE Select | ENSP00000299766.3:p.Cys279LeufsTer6 | |
| ENST00000299766.4:c.835_836del | ENSP00000299766.3:p.Cys279LeufsTer6 | |
| NM_005912.2:c.835_836del | NP_005903.2:p.Cys279LeufsTer6 | |
| NM_005912.3:c.835_836del MANE Select | NP_005903.2:p.Cys279LeufsTer6 |