gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000739 (EAS)
Exomes Max Group AF
0.00000835 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.34785183_34785185del , CM000663.2:g.34785183_34785185del | GRCh38 |
| NC_000001.10:g.35250784_35250786del , CM000663.1:g.35250784_35250786del | GRCh37 |
| NC_000001.9:g.35023371_35023373del | NCBI36 |
| NG_008309.1:g.8995_8997del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373366.3:c.421_423del (GJB3) MANE Select | ENSP00000362464.2:p.Ile141del | |
| ENST00000373362.3:c.421_423del (GJB3) | ENSP00000362460.3:p.Ile141del | |
| ENST00000373366.2:c.421_423del (GJB3) | ENSP00000362464.2:p.Ile141del | |
| ENST00000426886.1:c.208-66776_208-66774del (SMIM12) | ENSP00000429902.1:n.208-66776_208-66774del | |
| NM_001005752.1:c.421_423del (GJB3) | NP_001005752.1:p.Ile141del | |
| NM_024009.2:c.421_423del (GJB3) | NP_076872.1:p.Ile141del | |
| XR_947179.1:n.1001+13186_1001+13188del | ||
| XR_001737967.1:n.1023+13186_1023+13188del | ||
| NM_024009.3:c.421_423del (GJB3) MANE Select | NP_076872.1:p.Ile141del | |
| NM_001005752.2:c.421_423del (GJB3) | NP_001005752.1:p.Ile141del |