Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75516462_75516528del , CM000679.2:g.75516462_75516528del | GRCh38 |
| NC_000017.10:g.73512543_73512609del , CM000679.1:g.73512543_73512609del | GRCh37 |
| NC_000017.9:g.71024138_71024204del | NCBI36 |
| NG_013041.1:g.4935_5001del | |
| NG_033152.1:g.4062_4128del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000434205.8:c.-83+76_-83+142del | ENSP00000406559.4:n.-83+76_-83+142del | |
| ENST00000679370.1:n.443+76_443+142del | ||
| ENST00000434205.7:c.-83+76_-83+142del | ENSP00000406559.3:n.-83+76_-83+142del | |
| XM_006721821.2:c.-248+76_-248+142del | XP_006721884.1:n.-248+76_-248+142del |