gnomAD v4:
Joint Max Group AF
0.00043016 (MID)
Exomes Max Group AF
0.00045291 (MID)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226798_5226822del , CM000673.2:g.5226798_5226822del | GRCh38 |
| NC_000011.9:g.5248028_5248052del , CM000673.1:g.5248028_5248052del | GRCh37 |
| NC_000011.8:g.5204604_5204628del | NCBI36 |
| NG_000007.3:g.70795_70819del | |
| NG_059281.1:g.5251_5275del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.93-22_95del | ||
| ENST00000335295.4:c.93-22_95del | ||
| ENST00000380315.2:c.93-22_95del | ||
| ENST00000475226.1:n.3_27del | ||
| ENST00000485743.1:n.144-22_146del | ||
| ENST00000633227.1:c.77-22_79del | ||
| NM_000518.4:c.93-22_95del | ||
| NM_000518.5:c.93-22_95del |