Linked Data
dbSNP Id:
rs1907402884
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41583328del , CM000679.2:g.41583328del | GRCh38 |
| NC_000017.10:g.39739580del , CM000679.1:g.39739580del | GRCh37 |
| NC_000017.9:g.36993106del | NCBI36 |
| NG_008624.1:g.8568del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.1181del MANE Select | ENSP00000167586.6:p.Gln394ArgfsTer11 | |
| ENST00000167586.6:c.1181del | ENSP00000167586.6:p.Gln394ArgfsTer11 | |
| ENST00000441550.2:n.128del | ||
| ENST00000476662.1:n.631del | ||
| NM_000526.4:c.1181del | NP_000517.2:p.Gln394ArgfsTer11 | |
| NM_000526.5:c.1181del MANE Select | NP_000517.3:p.Gln394ArgfsTer11 |