Linked Data
dbSNP Id:
rs1364749480
gnomAD v2:
22-24176582-CAGT-C
gnomAD v3:
22-23834395-CAGT-C
gnomAD v4:
22-23834395-CAGT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.23834396_23834398del , CM000684.2:g.23834396_23834398del | GRCh38 |
| NC_000022.10:g.24176583_24176585del , CM000684.1:g.24176583_24176585del | GRCh37 |
| NC_000022.9:g.22506583_22506585del | NCBI36 |
| NG_009303.1:g.52434_52436del , LRG_520:g.52434_52436del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263121.12:c.*216_*218del | ENSP00000263121.8:n.*216_*218del | |
| ENST00000344921.11:c.*216_*218del | ENSP00000340883.6:n.*216_*218del | |
| ENST00000407422.8:c.*216_*218del | ENSP00000383984.3:n.*216_*218del | |
| ENST00000644036.2:c.*216_*218del MANE Select | ENSP00000494049.2:n.*216_*218del | |
| ENST00000647057.1:c.*868_*870del | ENSP00000494757.1:n.*868_*870del | |
| ENST00000263121.11:c.*216_*218del | ENSP00000263121.7:n.*216_*218del | |
| ENST00000344921.10:c.*216_*218del | ENSP00000340883.6:n.*216_*218del | |
| ENST00000407422.7:c.*216_*218del | ENSP00000383984.3:n.*216_*218del | |
| NM_001007468.1:c.*216_*218del | NP_001007469.1:n.*216_*218del | |
| NM_003073.3:c.*216_*218del , LRG_520t1:c.*216_*218del | NP_003064.2:n.*216_*218del | |
| XM_011530345.1:c.*216_*218del | XP_011528647.1:n.*216_*218del | |
| XM_011530346.1:c.*216_*218del | XP_011528648.1:n.*216_*218del | |
| NM_001007468.2:c.*216_*218del | NP_001007469.1:n.*216_*218del | |
| NM_001317946.1:c.*216_*218del | NP_001304875.1:n.*216_*218del | |
| NM_001362877.1:c.*216_*218del | NP_001349806.1:n.*216_*218del | |
| NM_003073.4:c.*216_*218del | NP_003064.2:n.*216_*218del | |
| NM_001007468.3:c.*216_*218del | NP_001007469.1:n.*216_*218del | |
| NM_001317946.2:c.*216_*218del | NP_001304875.1:n.*216_*218del | |
| NM_001362877.2:c.*216_*218del | NP_001349806.1:n.*216_*218del | |
| NM_003073.5:c.*216_*218del MANE Select | NP_003064.2:n.*216_*218del |