gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001174 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00001074 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102846793del , CM000674.2:g.102846793del | GRCh38 |
| NC_000012.11:g.103240571del , CM000674.1:g.103240571del | GRCh37 |
| NC_000012.10:g.101764701del | NCBI36 |
| NG_008690.1:g.75816del | |
| NG_008690.2:g.116624del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.969+108del MANE Select | ENSP00000448059.1:n.969+108del | |
| ENST00000307000.7:c.954+108del | ENSP00000303500.2:n.954+108del | |
| ENST00000549247.6:n.728+108del | ||
| ENST00000551114.2:n.631+108del | ||
| ENST00000553106.5:c.969+108del | ENSP00000448059.1:n.969+108del | |
| ENST00000635477.1:c.74-2356del | ||
| ENST00000635528.1:n.484+108del | ||
| NM_000277.1:c.969+108del | NP_000268.1:n.969+108del | |
| XM_011538422.1:c.913-2356del | XP_011536724.1:n.913-2356del | |
| NM_000277.2:c.969+108del | NP_000268.1:n.969+108del | |
| NM_001354304.1:c.969+108del | NP_001341233.1:n.969+108del | |
| NM_000277.3:c.969+108del MANE Select | NP_000268.1:n.969+108del | |
| NM_001354304.2:c.969+108del | NP_001341233.1:n.969+108del |