Linked Data
ClinVar Variation Id:
2955506
ClinVar RCV Id:
RCV003810657
dbSNP Id:
rs2034934277
gnomAD v4:
1-216199606-ATC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.216199609_216199610del , CM000663.2:g.216199609_216199610del | GRCh38 |
| NC_000001.10:g.216372951_216372952del , CM000663.1:g.216372951_216372952del | GRCh37 |
| NC_000001.9:g.214439574_214439575del | NCBI36 |
| NG_009497.1:g.228789_228790del | |
| NG_009497.2:g.228841_228842del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.3811+19_3811+20del (USH2A) MANE Select | ENSP00000305941.3:n.3811+19_3811+20del | |
| ENST00000674083.1:c.3811+19_3811+20del (USH2A) | ENSP00000501296.1:n.3811+19_3811+20del | |
| ENST00000307340.7:c.3811+19_3811+20del (USH2A) | ENSP00000305941.3:n.3811+19_3811+20del | |
| ENST00000366942.3:c.3811+19_3811+20del (USH2A) | ENSP00000355909.3:n.3811+19_3811+20del | |
| NM_007123.5:c.3811+19_3811+20del (USH2A) | NP_009054.5:n.3811+19_3811+20del | |
| NM_206933.2:c.3811+19_3811+20del (USH2A) | NP_996816.2:n.3811+19_3811+20del | |
| XR_922595.1:n.354+3684_354+3685del (USH2A-AS1) | ||
| XR_922596.1:n.354+3684_354+3685del (USH2A-AS1) | ||
| XR_922597.1:n.354+3684_354+3685del (USH2A-AS1) | ||
| XR_922598.1:n.484+3684_484+3685del (USH2A-AS1) | ||
| XR_922595.3:n.1076+3684_1076+3685del (USH2A-AS1) | ||
| XR_922596.3:n.1076+3684_1076+3685del (USH2A-AS1) | ||
| NM_206933.3:c.3811+19_3811+20del (USH2A) | NP_996816.2:n.3811+19_3811+20del | |
| NM_007123.6:c.3811+19_3811+20del (USH2A) | NP_009054.6:n.3811+19_3811+20del | |
| NM_206933.4:c.3811+19_3811+20del (USH2A) MANE Select | NP_996816.3:n.3811+19_3811+20del |