Linked Data
ClinVar Variation Id:
15422
dbSNP Id:
rs34889882
ExAC:
11:5248233 CAG / C
gnomAD v2:
11-5248233-CAG-C
gnomAD v3:
11-5227003-CAG-C
gnomAD v4:
11-5227003-CAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5227004_5227005del , CM000673.2:g.5227004_5227005del | GRCh38 |
| NC_000011.9:g.5248234_5248235del , CM000673.1:g.5248234_5248235del | GRCh37 |
| NC_000011.8:g.5204810_5204811del | NCBI36 |
| NG_000007.3:g.70611_70612del | |
| NG_059281.1:g.5067_5068del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647020.1:c.17_18del | ENSP00000494175.1:p.Pro6ArgfsTer17 | |
| ENST00000335295.4:c.17_18del MANE Select | ENSP00000333994.3:p.Pro6ArgfsTer17 | |
| ENST00000380315.2:c.17_18del | ENSP00000369671.2:p.Pro6ArgfsTer17 | |
| ENST00000485743.1:n.68_69del | ||
| ENST00000633227.1:c.17_18del | ENSP00000488004.1:p.Pro6ArgfsTer17 | |
| NM_000518.4:c.17_18del | NP_000509.1:p.Pro6ArgfsTer17 | |
| NM_000518.5:c.17_18del MANE Select | NP_000509.1:p.Pro6ArgfsTer17 |