Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43755329del , CM000679.2:g.43755329del | GRCh38 |
| NC_000017.10:g.41832697del , CM000679.1:g.41832697del | GRCh37 |
| NC_000017.9:g.39188223del | NCBI36 |
| NG_008078.2:g.8463del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301691.3:c.*16del MANE Select | ENSP00000301691.1:n.*16del | |
| ENST00000301691.2:c.*16del | ENSP00000301691.1:n.*16del | |
| NM_025237.2:c.*16del | NP_079513.1:n.*16del | |
| NM_025237.3:c.*16del MANE Select | NP_079513.1:n.*16del |