gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002077 (NFE)
Genomes Max Group AF
0.00001972 (NFE)
Exomes Max Group AF
0.00001917 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6393198_6393199del , CM000673.2:g.6393198_6393199del | GRCh38 |
| NC_000011.9:g.6414428_6414429del , CM000673.1:g.6414428_6414429del | GRCh37 |
| NC_000011.8:g.6371004_6371005del | NCBI36 |
| NG_011780.1:g.7774_7775del | |
| NG_029615.1:g.31216_31217del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342245.9:c.1092-18_1092-17del MANE Select | ENSP00000340409.4:n.1092-18_1092-17del | |
| ENST00000342245.8:c.1092-18_1092-17del | ENSP00000340409.4:n.1092-18_1092-17del | |
| ENST00000526280.1:c.321-419_321-418del | ||
| ENST00000527275.5:c.1089-18_1089-17del | ENSP00000435350.1:n.1089-18_1089-17del | |
| ENST00000531303.5:c.439-18_439-17del | ENSP00000432625.1:n.439-18_439-17del | |
| ENST00000533123.5:c.1092-419_1092-418del | ENSP00000435950.1:n.1092-419_1092-418del | |
| ENST00000534405.5:c.1132-18_1132-17del | ENSP00000434353.1:n.1132-18_1132-17del | |
| NM_000543.4:c.1092-18_1092-17del | NP_000534.3:n.1092-18_1092-17del | |
| NM_001007593.2:c.1089-18_1089-17del | NP_001007594.2:n.1089-18_1089-17del | |
| XM_005253075.3:c.1092-18_1092-17del | XP_005253132.1:n.1092-18_1092-17del | |
| XM_011520303.1:c.1132-419_1132-418del | XP_011518605.1:n.1132-419_1132-418del | |
| XM_011520304.1:c.1132-419_1132-418del | XP_011518606.1:n.1132-419_1132-418del | |
| XR_930886.1:n.1430-18_1430-17del | ||
| NM_001318087.1:c.1092-18_1092-17del | NP_001305016.1:n.1092-18_1092-17del | |
| NM_001318088.1:c.171-18_171-17del | NP_001305017.1:n.171-18_171-17del | |
| NM_001365135.1:c.1132-419_1132-418del | NP_001352064.1:n.1132-419_1132-418del | |
| NR_027400.2:n.1277-419_1277-418del | ||
| NR_134502.1:n.624-18_624-17del | ||
| XM_011520304.2:c.1132-419_1132-418del | XP_011518606.1:n.1132-419_1132-418del | |
| XR_001747940.2:n.1257-18_1257-17del | ||
| XR_002957158.1:n.1257-18_1257-17del | ||
| NM_000543.5:c.1092-18_1092-17del MANE Select | NP_000534.3:n.1092-18_1092-17del | |
| NM_001007593.3:c.1089-18_1089-17del | NP_001007594.2:n.1089-18_1089-17del | |
| NM_001318087.2:c.1092-18_1092-17del | NP_001305016.1:n.1092-18_1092-17del | |
| NM_001318088.2:c.171-18_171-17del | NP_001305017.1:n.171-18_171-17del | |
| NM_001365135.2:c.1132-419_1132-418del | NP_001352064.1:n.1132-419_1132-418del | |
| NR_027400.3:n.1217-419_1217-418del | ||
| NR_134502.2:n.564-18_564-17del |