gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0000097 (NFE)
Genomes Max Group AF
0.00000663 (NFE)
Exomes Max Group AF
0.00000877 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.97854418_97854438del , CM000671.2:g.97854418_97854438del | GRCh38 |
| NC_000009.11:g.100616700_100616720del , CM000671.1:g.100616700_100616720del | GRCh37 |
| NC_000009.10:g.99656521_99656541del | NCBI36 |
| NG_011979.1:g.6164_6184del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375123.5:c.504_524del MANE Select | ENSP00000364265.3:p.Ala169_Ala175del | |
| ENST00000375123.4:c.504_524del | ENSP00000364265.3:p.Ala169_Ala175del | |
| NM_004473.3:c.504_524del | NP_004464.2:p.Ala169_Ala175del | |
| NM_004473.4:c.504_524del MANE Select | NP_004464.2:p.Ala169_Ala175del |