Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50697481_50697565del , CM000684.2:g.50697481_50697565del | GRCh38 |
| NC_000022.10:g.51135909_51135993del , CM000684.1:g.51135909_51135993del | GRCh37 |
| NC_000022.9:g.49482775_49482859del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262795.7:c.948-83_949del | ||
| ENST00000414786.7:n.1532-83_1533del | ||
| ENST00000673971.2:c.1305-83_1306del | ||
| ENST00000262795.6:c.948-83_949del | ||
| ENST00000673971.1:c.1305-83_1306del | ||
| ENST00000262795.5:c.1345-84_1345del | ||
| ENST00000414786.6:n.1532-83_1533del | ||
| ENST00000445220.5:c.1326-83_1327del |