Linked Data
dbSNP Id:
rs281864496
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226945_5226956del , CM000673.2:g.5226945_5226956del | GRCh38 |
| NC_000011.9:g.5248175_5248186del , CM000673.1:g.5248175_5248186del | GRCh37 |
| NC_000011.8:g.5204751_5204762del | NCBI36 |
| NG_000007.3:g.70663_70674del | |
| NG_059281.1:g.5119_5130del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.69_80del | ENSP00000494175.1:p.Val24_Glu27del | |
| ENST00000335295.4:c.69_80del MANE Select | ENSP00000333994.3:p.Val24_Glu27del | |
| ENST00000380315.2:c.69_80del | ENSP00000369671.2:p.Val24_Glu27del | |
| ENST00000485743.1:n.120_131del | ||
| ENST00000633227.1:c.69_76+4del | ||
| NM_000518.4:c.69_80del | NP_000509.1:p.Val24_Glu27del | |
| NM_000518.5:c.69_80del MANE Select | NP_000509.1:p.Val24_Glu27del |