Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40097292_40097308del , CM000663.2:g.40097292_40097308del | GRCh38 |
| NC_000001.10:g.40562964_40562980del , CM000663.1:g.40562964_40562980del | GRCh37 |
| NC_000001.9:g.40335551_40335567del | NCBI36 |
| NG_009192.1:g.5167_5183del , LRG_690:g.5167_5183del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433473.7:c.-66_-50del | ENSP00000394863.3:n.-66_-50del | |
| NM_000310.3:c.-66_-50del , LRG_690t1:c.-66_-50del | NP_000301.1:n.-66_-50del | |
| NM_001142604.1:c.-66_-50del | NP_001136076.1:n.-66_-50del | |
| NM_001363695.1:c.-66_-50del | NP_001350624.1:n.-66_-50del |