Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.27750749_27750750del , CM000684.2:g.27750749_27750750del | GRCh38 |
| NC_000022.10:g.28146737_28146738del , CM000684.1:g.28146737_28146738del | GRCh37 |
| NC_000022.9:g.26476737_26476738del | NCBI36 |
| NG_023258.1:g.55749_55750del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703102.1:n.653_654del | ||
| ENST00000302326.5:c.*165_*166del MANE Select | ENSP00000304956.4:n.*165_*166del | |
| ENST00000302326.4:c.*165_*166del | ENSP00000304956.4:n.*165_*166del | |
| ENST00000424656.1:c.455+26_455+27del | ||
| ENST00000497225.1:n.484_485del | ||
| NM_002430.2:c.*165_*166del | NP_002421.3:n.*165_*166del | |
| NM_002430.3:c.*165_*166del MANE Select | NP_002421.3:n.*165_*166del |