Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5227099_5227100del , CM000673.2:g.5227099_5227100del | GRCh38 |
| NC_000011.9:g.5248329_5248330del , CM000673.1:g.5248329_5248330del | GRCh37 |
| NC_000011.8:g.5204905_5204906del | NCBI36 |
| NG_000007.3:g.70518_70519del | |
| NG_059281.1:g.4974_4975del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000380315.2:c.-18-59_-18-58del | ENSP00000369671.2:n.-18-59_-18-58del |
| ENST00000647020.1:c.-77_-76del | ENSP00000494175.1:n.-77_-76del |