gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00022191 (SAS)
Genomes Max Group AF
0.00016877 (SAS)
Exomes Max Group AF
0.00020394 (SAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49861769_49861778del , CM000681.2:g.49861769_49861778del | GRCh38 |
| NC_000019.9:g.50365026_50365035del , CM000681.1:g.50365026_50365035del | GRCh37 |
| NC_000019.8:g.55056838_55056847del | NCBI36 |
| NG_027717.1:g.10791_10800del | |
| NG_050666.1:g.17926_17935del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322344.8:c.1295_1298+6del | ||
| ENST00000322344.7:c.1295_1298+6del | ||
| ENST00000593946.5:c.*1222_*1225+6del | ||
| ENST00000594661.5:n.1796_1799+6del | ||
| ENST00000595081.5:n.122_131del | ||
| ENST00000596014.5:c.1295_1298+6del | ||
| ENST00000599454.5:n.139_148del | ||
| ENST00000600573.5:c.1202_1205+6del | ||
| ENST00000600910.5:c.1189-80_1189-71del | ENSP00000473137.1:n.1189-80_1189-71del | |
| ENST00000601816.3:n.194_203del | ||
| ENST00000625216.2:c.376_379+6del | ||
| ENST00000627232.2:c.1215_1218+6del | ||
| ENST00000631020.2:c.1187_1190+6del | ||
| NM_007254.3:c.1295_1298+6del | ||
| NM_007254.4:c.1295_1298+6del |