Linked Data
dbSNP Id:
rs1659923768
gnomAD v3:
1-229431179-AGGATGTGGG-A
gnomAD v4:
1-229431179-AGGATGTGGG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229431185_229431193del , CM000663.2:g.229431185_229431193del | GRCh38 |
| NC_000001.10:g.229566932_229566940del , CM000663.1:g.229566932_229566940del | GRCh37 |
| NC_000001.9:g.227633555_227633563del | NCBI36 |
| NG_006672.1:g.7909_7917del , LRG_429:g.7909_7917del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684723.1:c.*311_*319del | ENSP00000508084.1:n.*311_*319del |