MyVariant.info:
GRCh38
chr1:g.34784958_34784960del
GRCh38
chr1:g.34784957_34784959del
GRCh38
chr1:g.34784956_34784958del
GRCh37
chr1:g.35250559_35250561del
GRCh37
chr1:g.35250557_35250559del
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00023396 (AMR)
Genomes Max Group AF
0.00018469 (AFR)
Exomes Max Group AF
0.00022384 (AMR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.34784958_34784960del , CM000663.2:g.34784958_34784960del | GRCh38 |
| NC_000001.10:g.35250559_35250561del , CM000663.1:g.35250559_35250561del | GRCh37 |
| NC_000001.9:g.35023146_35023148del | NCBI36 |
| NG_008309.1:g.8770_8772del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373366.3:c.196_198del (GJB3) MANE Select | ENSP00000362464.2:p.Asp66del | |
| ENST00000373362.3:c.196_198del (GJB3) | ENSP00000362460.3:p.Asp66del | |
| ENST00000373366.2:c.196_198del (GJB3) | ENSP00000362464.2:p.Asp66del | |
| ENST00000426886.1:c.208-66549_208-66547del (SMIM12) | ENSP00000429902.1:n.208-66549_208-66547del | |
| NM_001005752.1:c.196_198del (GJB3) | NP_001005752.1:p.Asp66del | |
| NM_024009.2:c.196_198del (GJB3) | NP_076872.1:p.Asp66del | |
| XR_947179.1:n.1001+13413_1001+13415del | ||
| XR_001737967.1:n.1023+13413_1023+13415del | ||
| NM_024009.3:c.196_198del (GJB3) MANE Select | NP_076872.1:p.Asp66del | |
| NM_001005752.2:c.196_198del (GJB3) | NP_001005752.1:p.Asp66del |