Linked Data
dbSNP Id:
rs1590297475
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.299394_299415del , CM000673.2:g.299394_299415del | GRCh38 |
| NC_000011.9:g.299394_299415del , CM000673.1:g.299394_299415del | GRCh37 |
| NC_000011.8:g.289394_289415del | NCBI36 |
| NG_032892.1:g.5114_5135del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382614.2:c.78_99del MANE Select | ENSP00000372059.2:p.Gly27GlufsTer4 | |
| NM_001025295.2:c.78_99del | NP_001020466.1:p.Gly27GlufsTer4 | |
| NM_001025295.3:c.78_99del MANE Select | NP_001020466.1:p.Gly27GlufsTer4 |