Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31269386_31269492del , CM000668.2:g.31269386_31269492del | GRCh38 |
| NC_000006.11:g.31237163_31237269del , CM000668.1:g.31237163_31237269del | GRCh37 |
| NC_000006.10:g.31345142_31345248del | NCBI36 |
| NG_029422.2:g.7641_7747del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.1048+2_1049del | ||
| ENST00000376228.9:c.1048+2_1049del | ||
| ENST00000376237.8:c.*635+2_*636del | ||
| ENST00000383329.7:c.1066+2_1067del | ||
| ENST00000466892.5:n.176_282del | ||
| ENST00000470363.5:n.806+2_807del | ||
| ENST00000487245.5:n.1407+2_1408del | ||
| NM_002117.5:c.1048+2_1049del | ||
| NM_002117.6:c.1048+2_1049del |