Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.27750756_27750798del , CM000684.2:g.27750756_27750798del | GRCh38 |
| NC_000022.10:g.28146744_28146786del , CM000684.1:g.28146744_28146786del | GRCh37 |
| NC_000022.9:g.26476744_26476786del | NCBI36 |
| NG_023258.1:g.55703_55745del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703102.1:n.607_649del | ||
| ENST00000302326.5:c.*119_*161del MANE Select | ENSP00000304956.4:n.*119_*161del | |
| ENST00000302326.4:c.*119_*161del | ENSP00000304956.4:n.*119_*161del | |
| ENST00000424656.1:c.435_455+22del | ||
| ENST00000497225.1:n.438_480del | ||
| NM_002430.2:c.*119_*161del | NP_002421.3:n.*119_*161del | |
| NM_002430.3:c.*119_*161del MANE Select | NP_002421.3:n.*119_*161del |