Linked Data
dbSNP Id:
rs63751152
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5225629_5225638delinsCTGC , CM000673.2:g.5225629_5225638delinsCTGC | GRCh38 |
| NC_000011.9:g.5246859_5246868delinsCTGC , CM000673.1:g.5246859_5246868delinsCTGC | GRCh37 |
| NC_000011.8:g.5203435_5203444delinsCTGC | NCBI36 |
| NG_000007.3:g.71978_71987delinsGCAG | |
| NG_059281.1:g.6434_6443delinsGCAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.404_413delinsGCAG | ENSP00000494175.1:p.Val135_Val138delinsGlyArg | |
| ENST00000335295.4:c.404_413delinsGCAG MANE Select | ENSP00000333994.3:p.Val135_Val138delinsGlyArg | |
| ENST00000633227.1:c.*220_*229delinsGCAG | ENSP00000488004.1:n.*220_*229delinsGCAG | |
| NM_000518.4:c.404_413delinsGCAG | NP_000509.1:p.Val135_Val138delinsGlyArg | |
| NM_000518.5:c.404_413delinsGCAG MANE Select | NP_000509.1:p.Val135_Val138delinsGlyArg |