Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.27750780del , CM000684.2:g.27750780del | GRCh38 |
| NC_000022.10:g.28146768del , CM000684.1:g.28146768del | GRCh37 |
| NC_000022.9:g.26476768del | NCBI36 |
| NG_023258.1:g.55719del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703102.1:n.623del | ||
| ENST00000302326.5:c.*135del MANE Select | ENSP00000304956.4:n.*135del | |
| ENST00000302326.4:c.*135del | ENSP00000304956.4:n.*135del | |
| ENST00000424656.1:c.451del | ||
| ENST00000497225.1:n.454del | ||
| NM_002430.2:c.*135del | NP_002421.3:n.*135del | |
| NM_002430.3:c.*135del MANE Select | NP_002421.3:n.*135del |