Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75516460_75516463del , CM000679.2:g.75516460_75516463del | GRCh38 |
| NC_000017.10:g.73512541_73512544del , CM000679.1:g.73512541_73512544del | GRCh37 |
| NC_000017.9:g.71024136_71024139del | NCBI36 |
| NG_013041.1:g.4933_4936del | |
| NG_033152.1:g.4124_4127del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000434205.8:c.-83+74_-83+77del | ENSP00000406559.4:n.-83+74_-83+77del | |
| ENST00000679370.1:n.443+74_443+77del | ||
| ENST00000434205.7:c.-83+74_-83+77del | ENSP00000406559.3:n.-83+74_-83+77del | |
| XM_006721821.2:c.-248+74_-248+77del | XP_006721884.1:n.-248+74_-248+77del |