Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.150926510_150926511del , CM000665.2:g.150926510_150926511del | GRCh38 |
| NC_000003.11:g.150644297_150644298del , CM000665.1:g.150644297_150644298del | GRCh37 |
| NC_000003.10:g.152126987_152126988del | NCBI36 |
| NG_009168.1:g.51489_51490del , LRG_700:g.51489_51490del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295911.6:c.*341_*342del | ENSP00000295911.2:n.*341_*342del | |
| ENST00000562308.5:c.104+15071_104+15072del | ||
| ENST00000565169.1:c.162+15071_162+15072del | ||
| ENST00000569170.5:c.162+15071_162+15072del | ||
| NM_052995.2:c.*341_*342del , LRG_700t2:c.*341_*342del | NP_443721.1:n.*341_*342del | |
| XR_924167.1:n.2436_2437del |