Linked Data
ClinVar Variation Id:
99574
dbSNP Id:
rs61754364
gnomAD v2:
11-88911769-GC-G
gnomAD v3:
11-89178601-GC-G
gnomAD v4:
11-89178601-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.89178602del , CM000673.2:g.89178602del | GRCh38 |
| NC_000011.9:g.88911770del , CM000673.1:g.88911770del | GRCh37 |
| NC_000011.8:g.88551418del | NCBI36 |
| NG_008748.1:g.5731del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263321.6:c.649del MANE Select | ENSP00000263321.4:p.Arg217GlyfsTer9 | |
| ENST00000263321.5:c.649del | ENSP00000263321.4:p.Arg217GlyfsTer9 | |
| ENST00000526139.1:n.710del | ||
| NM_000372.4:c.649del | NP_000363.1:p.Arg217GlyfsTer9 | |
| XM_011542970.1:c.649del | XP_011541272.1:p.Arg217GlyfsTer9 | |
| XM_011542970.2:c.649del | XP_011541272.1:p.Arg217GlyfsTer9 | |
| XR_001748321.1:n.2718-65069del | ||
| XR_001748322.1:n.2733-65069del | ||
| NM_000372.5:c.649del MANE Select | NP_000363.1:p.Arg217GlyfsTer9 |