Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.9765528_9765573del , CM000685.2:g.9765528_9765573del | GRCh38 |
| NC_000023.10:g.9733568_9733613del , CM000685.1:g.9733568_9733613del | GRCh37 |
| NC_000023.9:g.9693568_9693613del | NCBI36 |
| NG_009074.1:g.5313_5358del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000467482.6:c.250+3_250+48del | ||
| ENST00000431126.1:c.-3+555_-3+600del | ENSP00000406138.1:n.-3+555_-3+600del | |
| ENST00000447366.5:c.-2-4739_-2-4694del | ENSP00000390546.2:n.-2-4739_-2-4694del | |
| ENST00000467482.5:c.250+3_250+48del | ||
| NM_000273.2:c.250+3_250+48del | ||
| XM_005274541.2:c.250+3_250+48del | ||
| XM_005274541.3:c.250+3_250+48del | ||
| XM_024452387.1:c.-2-4739_-2-4694del | XP_024308155.1:n.-2-4739_-2-4694del | |
| XM_024452388.1:c.-2-4739_-2-4694del | XP_024308156.1:n.-2-4739_-2-4694del | |
| NM_000273.3:c.250+3_250+48del |