Linked Data
dbSNP Id:
rs281860584
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31269986del , CM000668.2:g.31269986del | GRCh38 |
| NC_000006.11:g.31237763del , CM000668.1:g.31237763del | GRCh37 |
| NC_000006.10:g.31345742del | NCBI36 |
| NG_029422.2:g.7146del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376228.10:c.995del MANE Select | ENSP00000365402.5:p.Met332SerfsTer? | |
| ENST00000376228.9:c.995del | ENSP00000365402.5:p.Met332SerfsTer? | |
| ENST00000376237.8:c.*582del | ENSP00000365412.4:n.*582del | |
| ENST00000383329.7:c.995del | ENSP00000372819.3:p.Met332SerfsTer? | |
| ENST00000470363.5:n.313del | ||
| ENST00000487245.5:n.1354del | ||
| NM_002117.5:c.995del | NP_002108.4:p.Met332SerfsTer? | |
| NM_002117.6:c.995del MANE Select | NP_002108.4:p.Met332SerfsTer? |