Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.113475331_113475377del , CM000673.2:g.113475331_113475377del | GRCh38 |
| NC_000011.9:g.113346053_113346099del , CM000673.1:g.113346053_113346099del | GRCh37 |
| NC_000011.8:g.112851263_112851309del | NCBI36 |
| NG_008841.1:g.4906_4952del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000362072.8:c.-330_-284del MANE Select | ENSP00000354859.3:n.-330_-284del | |
| ENST00000362072.7:c.-330_-284del | ENSP00000354859.3:n.-330_-284del | |
| ENST00000540600.5:n.34+284_34+330del | ||
| NM_000795.4:c.-330_-284del MANE Select | NP_000786.1:n.-330_-284del | |
| NM_016574.4:c.-330_-284del | NP_057658.2:n.-330_-284del |