Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.68156350del , CM000674.2:g.68156350del | GRCh38 |
| NC_000012.11:g.68550130del , CM000674.1:g.68550130del | GRCh37 |
| NC_000012.10:g.66836397del | NCBI36 |
| NG_015840.1:g.8393del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229135.4:c.367-862del MANE Select | ENSP00000229135.3:n.367-862del | |
| ENST00000229135.3:c.367-862del | ENSP00000229135.3:n.367-862del | |
| NM_000619.2:c.367-862del | NP_000610.2:n.367-862del | |
| NM_000619.3:c.367-862del MANE Select | NP_000610.2:n.367-862del |