Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42722223del , CM000668.2:g.42722223del | GRCh38 |
| NC_000006.11:g.42689961del , CM000668.1:g.42689961del | GRCh37 |
| NC_000006.10:g.42797939del | NCBI36 |
| NG_009176.1:g.5399del | |
| NG_009176.2:g.5399del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230381.7:c.113del MANE Select | ENSP00000230381.5:p.Gly38AspfsTer4 | |
| ENST00000230381.6:c.113del | ENSP00000230381.5:p.Gly38AspfsTer4 | |
| NM_000322.4:c.113del | NP_000313.2:p.Gly38AspfsTer4 | |
| XR_427834.2:n.768del | ||
| XR_926295.1:n.768del | ||
| XR_427834.4:n.818del | ||
| XR_926295.3:n.818del | ||
| NM_000322.5:c.113del MANE Select | NP_000313.2:p.Gly38AspfsTer4 |