Linked Data
ClinVar Variation Id:
218809
ClinVar RCV Id:
RCV000202707
dbSNP Id:
rs751890300
ExAC:
17:39197440 GC / G
gnomAD v2:
17-39197440-GC-G
gnomAD v3:
17-41041188-GC-G
gnomAD v4:
17-41041188-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41041189del , CM000679.2:g.41041189del | GRCh38 |
| NC_000017.10:g.39197441del , CM000679.1:g.39197441del | GRCh37 |
| NC_000017.9:g.36450967del | NCBI36 |
| NG_050762.1:g.5273del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306271.5:c.209del MANE Select | ENSP00000305975.4:p.Cys70SerfsTer? | |
| ENST00000306271.4:c.209del | ENSP00000305975.4:p.Cys70SerfsTer? | |
| NM_030967.2:c.209del | NP_112229.1:p.Cys70SerfsTer? | |
| NM_030967.3:c.209del MANE Select | NP_112229.1:p.Cys70SerfsTer? |