Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42722368_42722369del , CM000668.2:g.42722368_42722369del | GRCh38 |
| NC_000006.11:g.42690106_42690107del , CM000668.1:g.42690106_42690107del | GRCh37 |
| NC_000006.10:g.42798084_42798085del | NCBI36 |
| NG_009176.1:g.5252_5253del | |
| NG_009176.2:g.5252_5253del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230381.7:c.-35_-34del MANE Select | ENSP00000230381.5:n.-35_-34del | |
| ENST00000230381.6:c.-35_-34del | ENSP00000230381.5:n.-35_-34del | |
| NM_000322.4:c.-35_-34del | NP_000313.2:n.-35_-34del | |
| XR_427834.2:n.621_622del | ||
| XR_926295.1:n.621_622del | ||
| XR_427834.4:n.671_672del | ||
| XR_926295.3:n.671_672del | ||
| NM_000322.5:c.-35_-34del MANE Select | NP_000313.2:n.-35_-34del |