Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42404789_42404824del , CM000679.2:g.42404789_42404824del | GRCh38 |
| NC_000017.10:g.40556807_40556842del , CM000679.1:g.40556807_40556842del | GRCh37 |
| NC_000017.9:g.37810333_37810368del | NCBI36 |
| NG_015845.1:g.23501_23536del | |
| NG_015845.2:g.23501_23536del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357037.6:c.1040_1075del MANE Select | ENSP00000349541.4:p.Asp347_Ala358del | |
| ENST00000357037.5:c.1040_1075del | ENSP00000349541.4:p.Asp347_Ala358del | |
| NM_012232.5:c.1040_1075del | NP_036364.2:p.Asp347_Ala358del | |
| NM_012232.6:c.1040_1075del MANE Select | NP_036364.2:p.Asp347_Ala358del |