Linked Data
dbSNP Id:
rs1481820849
gnomAD v2:
22-24176617-TTG-T
gnomAD v3:
22-23834430-TTG-T
gnomAD v4:
22-23834430-TTG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.23834434_23834435del , CM000684.2:g.23834434_23834435del | GRCh38 |
| NC_000022.10:g.24176621_24176622del , CM000684.1:g.24176621_24176622del | GRCh37 |
| NC_000022.9:g.22506621_22506622del | NCBI36 |
| NG_009303.1:g.52472_52473del , LRG_520:g.52472_52473del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263121.12:c.*254_*255del | ENSP00000263121.8:n.*254_*255del | |
| ENST00000344921.11:c.*254_*255del | ENSP00000340883.6:n.*254_*255del | |
| ENST00000407422.8:c.*254_*255del | ENSP00000383984.3:n.*254_*255del | |
| ENST00000644036.2:c.*254_*255del MANE Select | ENSP00000494049.2:n.*254_*255del | |
| ENST00000647057.1:c.*906_*907del | ENSP00000494757.1:n.*906_*907del | |
| ENST00000263121.11:c.*254_*255del | ENSP00000263121.7:n.*254_*255del | |
| ENST00000344921.10:c.*254_*255del | ENSP00000340883.6:n.*254_*255del | |
| ENST00000407422.7:c.*254_*255del | ENSP00000383984.3:n.*254_*255del | |
| NM_001007468.1:c.*254_*255del | NP_001007469.1:n.*254_*255del | |
| NM_003073.3:c.*254_*255del , LRG_520t1:c.*254_*255del | NP_003064.2:n.*254_*255del | |
| XM_011530345.1:c.*254_*255del | XP_011528647.1:n.*254_*255del | |
| XM_011530346.1:c.*254_*255del | XP_011528648.1:n.*254_*255del | |
| NM_001007468.2:c.*254_*255del | NP_001007469.1:n.*254_*255del | |
| NM_001317946.1:c.*254_*255del | NP_001304875.1:n.*254_*255del | |
| NM_001362877.1:c.*254_*255del | NP_001349806.1:n.*254_*255del | |
| NM_003073.4:c.*254_*255del | NP_003064.2:n.*254_*255del | |
| NM_001007468.3:c.*254_*255del | NP_001007469.1:n.*254_*255del | |
| NM_001317946.2:c.*254_*255del | NP_001304875.1:n.*254_*255del | |
| NM_001362877.2:c.*254_*255del | NP_001349806.1:n.*254_*255del | |
| NM_003073.5:c.*254_*255del MANE Select | NP_003064.2:n.*254_*255del |