Linked Data
dbSNP Id:
rs1351775262
gnomAD v2:
22-23915328-AGGG-A
gnomAD v3:
22-23573141-AGGG-A
gnomAD v4:
22-23573141-AGGG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.23573142_23573144del , CM000684.2:g.23573142_23573144del | GRCh38 |
| NC_000022.10:g.23915329_23915331del , CM000684.1:g.23915329_23915331del | GRCh37 |
| NC_000022.9:g.22245329_22245331del | NCBI36 |
| NG_009791.1:g.12165_12167del , LRG_69:g.12165_12167del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330377.3:c.*122_*124del MANE Select | ENSP00000329312.2:n.*122_*124del | |
| ENST00000249053.3:c.*393_*395del | ENSP00000249053.3:n.*393_*395del | |
| ENST00000330377.2:c.*122_*124del | ENSP00000329312.2:n.*122_*124del | |
| NM_020070.3:c.*122_*124del | NP_064455.1:n.*122_*124del | |
| NM_152855.2:c.*393_*395del | NP_690594.1:n.*393_*395del | |
| XM_011530169.1:c.*122_*124del | XP_011528471.1:n.*122_*124del | |
| XM_011530169.2:c.*122_*124del | XP_011528471.1:n.*122_*124del | |
| NM_020070.4:c.*122_*124del MANE Select | NP_064455.1:n.*122_*124del | |
| NM_001369906.1:c.*122_*124del | NP_001356835.1:n.*122_*124del | |
| NM_152855.3:c.*393_*395del | NP_690594.1:n.*393_*395del |