Linked Data
dbSNP Id:
rs281864526
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5225712_5225723del , CM000673.2:g.5225712_5225723del | GRCh38 |
| NC_000011.9:g.5246942_5246953del , CM000673.1:g.5246942_5246953del | GRCh37 |
| NC_000011.8:g.5203518_5203529del | NCBI36 |
| NG_000007.3:g.71897_71908del | |
| NG_059281.1:g.6353_6364del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647020.1:c.323_334del | ENSP00000494175.1:p.Gly108_Leu111del | |
| ENST00000335295.4:c.323_334del MANE Select | ENSP00000333994.3:p.Gly108_Leu111del | |
| ENST00000475226.1:n.255_266del | ||
| ENST00000633227.1:c.*139_*150del | ENSP00000488004.1:n.*139_*150del | |
| NM_000518.4:c.323_334del | NP_000509.1:p.Gly108_Leu111del | |
| NM_000518.5:c.323_334del MANE Select | NP_000509.1:p.Gly108_Leu111del |