Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94942022_94942192del , CM000672.2:g.94942022_94942192del | GRCh38 |
| NC_000010.10:g.96701779_96701949del , CM000672.1:g.96701779_96701949del | GRCh37 |
| NC_000010.9:g.96691769_96691939del | NCBI36 |
| NG_008385.1:g.8365_8535del | |
| NG_008385.2:g.8865_9035del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260682.8:c.331+2_332del | ||
| ENST00000643112.1:c.331+2_332del | ||
| ENST00000645207.1:n.484+2_485del | ||
| ENST00000260682.6:c.331+2_332del | ||
| ENST00000461906.1:n.356+2_357del | ||
| ENST00000473496.1:n.102+2_103del | ||
| NM_000771.3:c.331+2_332del | ||
| NM_000771.4:c.331+2_332del |