Linked Data
ClinVar Variation Id:
48504
dbSNP Id:
rs397518014
ExAC:
1:216373221 CA / C
gnomAD v2:
1-216373221-CA-C
gnomAD v4:
1-216199879-CA-C
PubMed:
PMID:20613545
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.216199880del , CM000663.2:g.216199880del | GRCh38 |
| NC_000001.10:g.216373222del , CM000663.1:g.216373222del | GRCh37 |
| NC_000001.9:g.214439845del | NCBI36 |
| NG_009497.1:g.228517del | |
| NG_009497.2:g.228569del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307340.8:c.3558del (USH2A) MANE Select | ENSP00000305941.3:p.Cys1186TrpfsTer? | |
| ENST00000674083.1:c.3558del (USH2A) | ENSP00000501296.1:p.Cys1186TrpfsTer? | |
| ENST00000307340.7:c.3558del (USH2A) | ENSP00000305941.3:p.Cys1186TrpfsTer? | |
| ENST00000366942.3:c.3558del (USH2A) | ENSP00000355909.3:p.Cys1186TrpfsTer? | |
| NM_007123.5:c.3558del (USH2A) | NP_009054.5:p.Cys1186TrpfsTer? | |
| NM_206933.2:c.3558del (USH2A) | NP_996816.2:p.Cys1186TrpfsTer? | |
| XR_922595.1:n.354+3955del (USH2A-AS1) | ||
| XR_922596.1:n.354+3955del (USH2A-AS1) | ||
| XR_922597.1:n.354+3955del (USH2A-AS1) | ||
| XR_922598.1:n.484+3955del (USH2A-AS1) | ||
| XR_922595.3:n.1076+3955del (USH2A-AS1) | ||
| XR_922596.3:n.1076+3955del (USH2A-AS1) | ||
| NM_206933.3:c.3558del (USH2A) | NP_996816.2:p.Cys1186TrpfsTer? | |
| NM_007123.6:c.3558del (USH2A) | NP_009054.6:p.Cys1186TrpfsTer? | |
| NM_206933.4:c.3558del (USH2A) MANE Select | NP_996816.3:p.Cys1186TrpfsTer? |