Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43755297_43755335del , CM000679.2:g.43755297_43755335del | GRCh38 |
| NC_000017.10:g.41832665_41832703del , CM000679.1:g.41832665_41832703del | GRCh37 |
| NC_000017.9:g.39188191_39188229del | NCBI36 |
| NG_008078.2:g.8464_8502del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301691.3:c.*17_*55del MANE Select | ENSP00000301691.1:n.*17_*55del | |
| ENST00000301691.2:c.*17_*55del | ENSP00000301691.1:n.*17_*55del | |
| NM_025237.2:c.*17_*55del | NP_079513.1:n.*17_*55del | |
| NM_025237.3:c.*17_*55del MANE Select | NP_079513.1:n.*17_*55del |