Linked Data
ClinVar Variation Id:
15418
dbSNP Id:
rs63749819
ExAC:
11:5248231 CT / C
gnomAD v2:
11-5248231-CT-C
gnomAD v3:
11-5227001-CT-C
gnomAD v4:
11-5227001-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5227002del , CM000673.2:g.5227002del | GRCh38 |
| NC_000011.9:g.5248232del , CM000673.1:g.5248232del | GRCh37 |
| NC_000011.8:g.5204808del | NCBI36 |
| NG_000007.3:g.70614del | |
| NG_059281.1:g.5070del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647020.1:c.20del | ENSP00000494175.1:p.Glu7GlyfsTer13 | |
| ENST00000335295.4:c.20del MANE Select | ENSP00000333994.3:p.Glu7GlyfsTer13 | |
| ENST00000380315.2:c.20del | ENSP00000369671.2:p.Glu7GlyfsTer13 | |
| ENST00000485743.1:n.71del | ||
| ENST00000633227.1:c.20del | ENSP00000488004.1:p.Glu7GlyfsTer13 | |
| NM_000518.4:c.20del | NP_000509.1:p.Glu7GlyfsTer13 | |
| NM_000518.5:c.20del MANE Select | NP_000509.1:p.Glu7GlyfsTer13 |