Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.27750794del , CM000684.2:g.27750794del | GRCh38 |
| NC_000022.10:g.28146782del , CM000684.1:g.28146782del | GRCh37 |
| NC_000022.9:g.26476782del | NCBI36 |
| NG_023258.1:g.55705del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703102.1:n.609del | ||
| ENST00000302326.5:c.*121del MANE Select | ENSP00000304956.4:n.*121del | |
| ENST00000302326.4:c.*121del | ENSP00000304956.4:n.*121del | |
| ENST00000424656.1:c.437del | ||
| ENST00000497225.1:n.440del | ||
| NM_002430.2:c.*121del | NP_002421.3:n.*121del | |
| NM_002430.3:c.*121del MANE Select | NP_002421.3:n.*121del |