Linked Data
dbSNP Id:
rs1309824561
gnomAD v2:
1-216373469-ATG-A
gnomAD v3:
1-216200127-ATG-A
gnomAD v4:
1-216200127-ATG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.216200128_216200129del , CM000663.2:g.216200128_216200129del | GRCh38 |
| NC_000001.10:g.216373470_216373471del , CM000663.1:g.216373470_216373471del | GRCh37 |
| NC_000001.9:g.214440093_214440094del | NCBI36 |
| NG_009497.1:g.228268_228269del | |
| NG_009497.2:g.228320_228321del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.3317-8_3317-7del (USH2A) MANE Select | ENSP00000305941.3:n.3317-8_3317-7del | |
| ENST00000674083.1:c.3317-8_3317-7del (USH2A) | ENSP00000501296.1:n.3317-8_3317-7del | |
| ENST00000307340.7:c.3317-8_3317-7del (USH2A) | ENSP00000305941.3:n.3317-8_3317-7del | |
| ENST00000366942.3:c.3317-8_3317-7del (USH2A) | ENSP00000355909.3:n.3317-8_3317-7del | |
| NM_007123.5:c.3317-8_3317-7del (USH2A) | NP_009054.5:n.3317-8_3317-7del | |
| NM_206933.2:c.3317-8_3317-7del (USH2A) | NP_996816.2:n.3317-8_3317-7del | |
| XR_922595.1:n.355-3902_355-3901del (USH2A-AS1) | ||
| XR_922596.1:n.354+4203_354+4204del (USH2A-AS1) | ||
| XR_922597.1:n.354+4203_354+4204del (USH2A-AS1) | ||
| XR_922598.1:n.485-3902_485-3901del (USH2A-AS1) | ||
| XR_922595.3:n.1077-3902_1077-3901del (USH2A-AS1) | ||
| XR_922596.3:n.1076+4203_1076+4204del (USH2A-AS1) | ||
| NM_206933.3:c.3317-8_3317-7del (USH2A) | NP_996816.2:n.3317-8_3317-7del | |
| NM_007123.6:c.3317-8_3317-7del (USH2A) | NP_009054.6:n.3317-8_3317-7del | |
| NM_206933.4:c.3317-8_3317-7del (USH2A) MANE Select | NP_996816.3:n.3317-8_3317-7del |