Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5603415_5603496del , CM000669.2:g.5603415_5603496del | GRCh38 |
| NC_000007.13:g.5643046_5643127del , CM000669.1:g.5643046_5643127del | GRCh37 |
| NC_000007.12:g.5609572_5609653del | NCBI36 |
| NG_030004.1:g.15611_15692del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382361.8:c.989+2_990del | ||
| ENST00000382361.7:c.989+2_990del | ||
| ENST00000405801.2:c.155+2_156del | ||
| ENST00000444748.5:c.155+2_156del | ||
| ENST00000447103.5:c.155+2_156del | ||
| ENST00000473330.1:n.542+2_543del | ||
| NM_003088.3:c.989+2_990del | ||
| NM_003088.4:c.989+2_990del |