Linked Data
ClinVar Variation Id:
499854
ClinVar RCV Id:
RCV000592030
dbSNP Id:
rs1240332486
gnomAD v3:
1-52396044-ACT-A
gnomAD v4:
1-52396044-ACT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.52396045_52396046del , CM000663.2:g.52396045_52396046del | GRCh38 |
| NC_000001.10:g.52861717_52861718del , CM000663.1:g.52861717_52861718del | GRCh37 |
| NC_000001.9:g.52634305_52634306del | NCBI36 |
| NG_028251.1:g.13426_13427del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371568.8:c.721_721+1del | ||
| ENST00000371566.1:c.721_721+1del | ||
| ENST00000371568.7:c.721_721+1del | ||
| NM_001190818.1:c.721_721+1del | ||
| NM_001190819.1:c.721_721+1del | ||
| NM_004153.3:c.721_721+1del | ||
| XM_011541527.3:c.-417_-417+1del | ||
| XM_017001388.2:c.721_721+1del | ||
| XM_017001389.2:c.-80_-80+1del | ||
| NM_004153.4:c.721_721+1del | ||
| NM_001190818.2:c.721_721+1del | ||
| NM_001190819.2:c.721_721+1del |