Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42722187del , CM000668.2:g.42722187del | GRCh38 |
| NC_000006.11:g.42689925del , CM000668.1:g.42689925del | GRCh37 |
| NC_000006.10:g.42797903del | NCBI36 |
| NG_009176.1:g.5434del | |
| NG_009176.2:g.5434del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230381.7:c.148del MANE Select | ENSP00000230381.5:p.Asp50MetfsTer2 | |
| ENST00000230381.6:c.148del | ENSP00000230381.5:p.Asp50MetfsTer2 | |
| NM_000322.4:c.148del | NP_000313.2:p.Asp50MetfsTer2 | |
| XR_427834.2:n.803del | ||
| XR_926295.1:n.803del | ||
| XR_427834.4:n.853del | ||
| XR_926295.3:n.853del | ||
| NM_000322.5:c.148del MANE Select | NP_000313.2:p.Asp50MetfsTer2 |