Linked Data
ClinVar Variation Id:
6490
dbSNP Id:
rs786200895
ExAC:
1:35250556 TACG / T
gnomAD v2:
1-35250556-TACG-T
gnomAD v3:
1-34784955-TACG-T
gnomAD v4:
1-34784955-TACG-T
MyVariant Identifiers:
chr1:g.35250559_35250561del (hg19)
chr1:g.35250557_35250559del (hg19)
chr1:g.34784958_34784960del (hg38)
chr1:g.34784957_34784959del (hg38)
chr1:g.34784956_34784958del (hg38)
PubMed:
PMID:11309368
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 |