ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50624869_50626277del , CM000684.2:g.50624869_50626277del | GRCh38 |
| NC_000022.10:g.51063297_51064705del , CM000684.1:g.51063297_51064705del | GRCh37 |
| NC_000022.9:g.49410163_49411571del | NCBI36 |
| NG_009260.2:g.6904_8312del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216124.10:c.857_*277del | ||
| NM_000487.5:c.857_*277del | ||
| NM_001085425.2:c.857_*277del | ||
| NM_001085426.2:c.857_*277del | ||
| NM_001085427.2:c.857_*277del | ||
| NM_001085428.2:c.599_*277del | ||
| NM_001362782.1:c.599_*277del | ||
| NM_000487.6:c.857_*277del | ||
| NM_001085425.3:c.857_*277del | ||
| NM_001085426.3:c.857_*277del | ||
| NM_001085427.3:c.857_*277del | ||
| NM_001085428.3:c.599_*277del | ||
| NM_001362782.2:c.599_*277del |