gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00083739 (AFR)
Genomes Max Group AF
0.00061324 (AFR)
Exomes Max Group AF
0.00102644 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013543_25013566del , CM000685.2:g.25013543_25013566del | GRCh38 |
| NC_000023.10:g.25031660_25031683del , CM000685.1:g.25031660_25031683del | GRCh37 |
| NC_000023.9:g.24941581_24941604del | NCBI36 |
| NG_008281.1:g.7395_7418del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.441_464del MANE Select | ENSP00000368332.4:p.Ala148_Ala155del | |
| ENST00000379044.4:c.441_464del | ENSP00000368332.4:p.Ala148_Ala155del | |
| NM_139058.2:c.441_464del | NP_620689.1:p.Ala148_Ala155del | |
| NM_139058.3:c.441_464del MANE Select | NP_620689.1:p.Ala148_Ala155del |