Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75516469_75516535del , CM000679.2:g.75516469_75516535del | GRCh38 |
| NC_000017.10:g.73512550_73512616del , CM000679.1:g.73512550_73512616del | GRCh37 |
| NC_000017.9:g.71024145_71024211del | NCBI36 |
| NG_013041.1:g.4942_5008del | |
| NG_033152.1:g.4051_4117del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000434205.8:c.-83+83_-83+149del | ENSP00000406559.4:n.-83+83_-83+149del | |
| ENST00000679370.1:n.443+83_443+149del | ||
| ENST00000434205.7:c.-83+83_-83+149del | ENSP00000406559.3:n.-83+83_-83+149del | |
| XM_006721821.2:c.-248+83_-248+149del | XP_006721884.1:n.-248+83_-248+149del |