Linked Data
ClinVar Variation Id:
427707
dbSNP Id:
rs1554607546
gnomAD v4:
8-86604091-AC-A
PubMed:
PMID:28795510
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86604093del , CM000670.2:g.86604093del | GRCh38 |
| NC_000008.10:g.87616321del , CM000670.1:g.87616321del | GRCh37 |
| NC_000008.9:g.87685437del | NCBI36 |
| NG_016980.1:g.144584del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320005.6:c.1781+1del | ||
| ENST00000681546.1:n.1601+1del | ||
| ENST00000681746.1:c.*192+1del | ||
| ENST00000320005.5:c.1781+1del | ||
| NM_019098.4:c.1781+1del | ||
| XM_011517138.1:c.1367+1del | ||
| XM_011517138.2:c.1367+1del | ||
| NM_019098.5:c.1781+1del |