Linked Data
ClinVar Variation Id:
15415
dbSNP Id:
rs80356820
ExAC:
11:5247986 AG / A
gnomAD v2:
11-5247986-AG-A
gnomAD v4:
11-5226756-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226758del , CM000673.2:g.5226758del | GRCh38 |
| NC_000011.9:g.5247988del , CM000673.1:g.5247988del | GRCh37 |
| NC_000011.8:g.5204564del | NCBI36 |
| NG_000007.3:g.70859del | |
| NG_059281.1:g.5315del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647020.1:c.135del | ENSP00000494175.1:p.Phe46LeufsTer16 | |
| ENST00000335295.4:c.135del MANE Select | ENSP00000333994.3:p.Phe46LeufsTer16 | |
| ENST00000380315.2:c.135del | ENSP00000369671.2:p.Phe46LeufsTer16 | |
| ENST00000475226.1:n.67del | ||
| ENST00000485743.1:n.186del | ||
| ENST00000633227.1:c.119del | ENSP00000488004.1:p.Pro40LeufsTer8 | |
| NM_000518.4:c.135del | NP_000509.1:p.Phe46LeufsTer16 | |
| NM_000518.5:c.135del MANE Select | NP_000509.1:p.Phe46LeufsTer16 |