MyVariant.info:
GRCh38
chr22:g.42126133_42126135del
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.3768418 (MID)
Genomes Max Group AF
0.35184819 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42126136_42126138del , CM000684.2:g.42126136_42126138del | GRCh38 |
| NG_008376.3:g.8857_8859del | |
| NG_008376.4:g.9676_9678del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011529966.1:c.1453-182_1453-180del | XP_011528268.1:n.1453-182_1453-180del | |
| XM_011529967.1:c.1453-182_1453-180del | XP_011528269.1:n.1453-182_1453-180del | |
| XM_011529968.1:c.1453-208_1453-206del | XP_011528270.1:n.1453-208_1453-206del | |
| XM_011529969.1:c.1309-182_1309-180del | XP_011528271.1:n.1309-182_1309-180del | |
| XM_011529970.1:c.1300-182_1300-180del | XP_011528272.1:n.1300-182_1300-180del |