Linked Data
dbSNP Id:
rs2143965763
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.60371376del , CM000680.2:g.60371376del | GRCh38 |
| NC_000018.9:g.58038609del , CM000680.1:g.58038609del | GRCh37 |
| NC_000018.8:g.56189589del | NCBI36 |
| NG_016441.1:g.6395del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299766.5:c.976del MANE Select | ENSP00000299766.3:p.Cys326ValfsTer29 | |
| ENST00000299766.4:c.976del | ENSP00000299766.3:p.Cys326ValfsTer29 | |
| NM_005912.2:c.976del | NP_005903.2:p.Cys326ValfsTer? | |
| NM_005912.3:c.976del MANE Select | NP_005903.2:p.Cys326ValfsTer29 |