gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002977 (EAS)
Genomes Max Group AF
0.00003254 (AFR)
Exomes Max Group AF
0.00002003 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44258044_44258070del , CM000679.2:g.44258044_44258070del | GRCh38 |
| NC_000017.10:g.42335412_42335438del , CM000679.1:g.42335412_42335438del | GRCh37 |
| NC_000017.9:g.39690938_39690964del | NCBI36 |
| NG_007498.1:g.15066_15092del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262418.12:c.1199_1225del MANE Select | ENSP00000262418.6:p.Ala400_Ala408del | |
| ENST00000262418.10:c.1199_1225del | ENSP00000262418.6:p.Ala400_Ala408del | |
| ENST00000399246.3:c.777+1193_777+1219del | ENSP00000382190.3:n.777+1193_777+1219del | |
| ENST00000497360.5:n.1338_1364del | ||
| NM_000342.3:c.1199_1225del | NP_000333.1:p.Ala400_Ala408del | |
| XM_005257593.3:c.1004_1030del | XP_005257650.1:p.Ala335_Ala343del | |
| XM_011525129.1:c.1199_1225del | XP_011523431.1:p.Ala400_Ala408del | |
| XM_011525130.1:c.1199_1225del | XP_011523432.1:p.Ala400_Ala408del | |
| XM_011525131.1:c.1199_1225del | XP_011523433.1:p.Ala400_Ala408del | |
| XM_005257593.5:c.1004_1030del | XP_005257650.1:p.Ala335_Ala343del | |
| XM_011525129.2:c.1199_1225del | XP_011523431.1:p.Ala400_Ala408del | |
| NM_000342.4:c.1199_1225del MANE Select | NP_000333.1:p.Ala400_Ala408del |