gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.44771227 (NFE)
Genomes Max Group AF
0.44772651 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.86085058_86085061del , CM000671.2:g.86085058_86085061del | GRCh38 |
| NC_000009.11:g.88699973_88699976del , CM000671.1:g.88699973_88699976del | GRCh37 |
| NC_000009.10:g.87889793_87889796del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388711.7:c.-21-5713_-21-5710del | ENSP00000373363.3:n.-21-5713_-21-5710del | |
| ENST00000388712.7:c.-21-5713_-21-5710del MANE Select | ENSP00000373364.3:n.-21-5713_-21-5710del | |
| ENST00000466178.1:c.-141-15_-141-12del | ENSP00000418155.1:n.-141-15_-141-12del | |
| ENST00000472919.1:n.150-5713_150-5710del | ||
| NM_016548.3:c.-21-5713_-21-5710del | NP_057632.2:n.-21-5713_-21-5710del | |
| NM_177937.2:c.-21-5713_-21-5710del | NP_808800.1:n.-21-5713_-21-5710del | |
| NM_016548.4:c.-21-5713_-21-5710del MANE Select | NP_057632.2:n.-21-5713_-21-5710del | |
| NM_177937.3:c.-21-5713_-21-5710del | NP_808800.1:n.-21-5713_-21-5710del |