Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.9765485_9765574del , CM000685.2:g.9765485_9765574del | GRCh38 |
| NC_000023.10:g.9733525_9733614del , CM000685.1:g.9733525_9733614del | GRCh37 |
| NC_000023.9:g.9693525_9693614del | NCBI36 |
| NG_009074.1:g.5308_5397del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000467482.6:c.248_250+87del | ||
| ENST00000431126.1:c.-3+550_-3+639del | ENSP00000406138.1:n.-3+550_-3+639del | |
| ENST00000447366.5:c.-2-4744_-2-4655del | ENSP00000390546.2:n.-2-4744_-2-4655del | |
| ENST00000467482.5:c.248_250+87del | ||
| NM_000273.2:c.248_250+87del | ||
| XM_005274541.2:c.248_250+87del | ||
| XM_005274541.3:c.248_250+87del | ||
| XM_024452387.1:c.-2-4744_-2-4655del | XP_024308155.1:n.-2-4744_-2-4655del | |
| XM_024452388.1:c.-2-4744_-2-4655del | XP_024308156.1:n.-2-4744_-2-4655del | |
| NM_000273.3:c.248_250+87del |