Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48380085del , CM000675.2:g.48380085del | GRCh38 |
| NC_000013.10:g.48954221del , CM000675.1:g.48954221del | GRCh37 |
| NC_000013.9:g.47852222del | NCBI36 |
| NG_009009.1:g.81339del , LRG_517:g.81339del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.1421+1del | ||
| ENST00000650461.1:c.1421+1del | ||
| ENST00000267163.4:c.1421+1del | ||
| NM_000321.2:c.1421+1del , LRG_517t1:c.1421+1del | ||
| XM_011535171.1:c.1160+1del | ||
| XM_011535171.2:c.1160+1del | ||
| NM_000321.3:c.1421+1del |