Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50697513_50697564del , CM000684.2:g.50697513_50697564del | GRCh38 |
| NC_000022.10:g.51135941_51135992del , CM000684.1:g.51135941_51135992del | GRCh37 |
| NC_000022.9:g.49482807_49482858del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262795.7:c.948-51_948del | ||
| ENST00000414786.7:n.1532-51_1532del | ||
| ENST00000673971.2:c.1305-51_1305del | ||
| ENST00000262795.6:c.948-51_948del | ||
| ENST00000673971.1:c.1305-51_1305del | ||
| ENST00000262795.5:c.1345-52_1345-1del | ENSP00000489147.1:n.1345-52_1345-1del | |
| ENST00000414786.6:n.1532-51_1532del | ||
| ENST00000445220.5:c.1326-51_1326del |