Linked Data
dbSNP Id:
rs1171379850
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128945680del , CM000671.2:g.128945680del | GRCh38 |
| NC_000009.11:g.131707959del , CM000671.1:g.131707959del | GRCh37 |
| NC_000009.10:g.130747780del | NCBI36 |
| NG_017009.1:g.7054del , LRG_744:g.7054del | |
| NG_033111.1:g.2988del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372586.4:c.*7del MANE Select | ENSP00000361667.3:n.*7del | |
| ENST00000372586.3:c.*7del | ENSP00000361667.3:n.*7del | |
| ENST00000482796.1:c.39-3509del | ENSP00000417556.2:n.39-3509del | |
| NM_014908.3:c.*7del , LRG_744t1:c.*7del | NP_055723.1:n.*7del | |
| NM_014908.4:c.*7del MANE Select | NP_055723.1:n.*7del |