Linked Data
ClinVar Variation Id:
2785975
ClinVar RCV Id:
RCV003664700
dbSNP Id:
rs1752514010
gnomAD v4:
5-33963670-GA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.33963676del , CM000667.2:g.33963676del | GRCh38 |
| NC_000005.9:g.33963781del , CM000667.1:g.33963781del | GRCh37 |
| NC_000005.8:g.33999538del | NCBI36 |
| NG_011691.2:g.26005del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296589.9:c.888+20del MANE Select | ENSP00000296589.4:n.888+20del | |
| ENST00000296589.8:c.888+20del | ENSP00000296589.4:n.888+20del | |
| ENST00000382102.7:c.888+20del | ENSP00000371534.3:n.888+20del | |
| ENST00000505056.1:n.710del | ||
| ENST00000509381.1:c.563-9167del | ENSP00000421100.1:n.563-9167del | |
| ENST00000510600.1:c.363+20del | ENSP00000424010.1:n.363+20del | |
| NM_001012509.3:c.888+20del | NP_001012527.1:n.888+20del | |
| NM_001297417.2:c.563-9167del | NP_001284346.2:n.563-9167del | |
| NM_016180.4:c.888+20del | NP_057264.3:n.888+20del | |
| XM_011514051.1:c.486+20del | XP_011512353.1:n.486+20del | |
| XM_011514052.1:c.888+20del | XP_011512354.1:n.888+20del | |
| XR_925620.1:n.1705+20del | ||
| NM_016180.5:c.888+20del MANE Select | NP_057264.4:n.888+20del | |
| NM_001012509.4:c.888+20del | NP_001012527.2:n.888+20del | |
| NM_001297417.3:c.563-9167del | NP_001284346.2:n.563-9167del | |
| NM_001297417.4:c.563-9167del | NP_001284346.2:n.563-9167del |