Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40097477_40097492del , CM000663.2:g.40097477_40097492del | GRCh38 |
| NC_000001.10:g.40563149_40563164del , CM000663.1:g.40563149_40563164del | GRCh37 |
| NC_000001.9:g.40335736_40335751del | NCBI36 |
| NG_009192.1:g.4979_4994del , LRG_690:g.4979_4994del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433473.7:c.-254_-239del | ENSP00000394863.3:n.-254_-239del |