Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48471830_48480180del , CM000675.2:g.48471830_48480180del | GRCh38 |
| NC_000013.10:g.49045966_49054316del , CM000675.1:g.49045966_49054316del | GRCh37 |
| NC_000013.9:g.47943967_47952317del | NCBI36 |
| NG_009009.1:g.173084_181434del , LRG_517:g.173084_181434del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.2490-1530_*109del | ||
| ENST00000643064.1:c.194+90387_194+98737del | ||
| ENST00000650461.1:c.2490-1530_*143del | ||
| ENST00000267163.4:c.2490-1530_*109del | ||
| NM_000321.2:c.2490-1530_*109del , LRG_517t1:c.2490-1530_*109del | ||
| XM_011535171.1:c.2229-1530_*109del | ||
| XM_011535171.2:c.2229-1530_*109del | ||
| NM_000321.3:c.2490-1530_*109del |