Linked Data
dbSNP Id:
rs2133933055
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6319245del , CM000673.2:g.6319245del | GRCh38 |
| NC_000011.9:g.6340475del , CM000673.1:g.6340475del | GRCh37 |
| NC_000011.8:g.6297051del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303927.4:c.704del MANE Select | ENSP00000307292.3:p.Glu235GlyfsTer26 | |
| ENST00000303927.3:c.704del | ENSP00000307292.3:p.Glu235GlyfsTer26 | |
| ENST00000524852.1:n.490del | ||
| ENST00000530979.1:c.800del | ENSP00000432047.1:p.Glu267GlyfsTer26 | |
| ENST00000532354.1:n.726del | ||
| NM_145040.2:c.704del | NP_659477.2:p.Glu235GlyfsTer26 | |
| XR_930997.1:n.720+1025del | ||
| XR_242848.4:n.105del | ||
| NM_145040.3:c.704del MANE Select | NP_659477.2:p.Glu235GlyfsTer26 |