Linked Data
dbSNP Id:
rs1197189265
gnomAD v2:
22-20779439-GCTAAGCGC-G
gnomAD v3:
22-20425149-GCTAAGCGC-G
gnomAD v4:
22-20425149-GCTAAGCGC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20425152_20425159del , CM000684.2:g.20425152_20425159del | GRCh38 |
| NC_000022.10:g.20779442_20779449del , CM000684.1:g.20779442_20779449del | GRCh37 |
| NC_000022.9:g.19109442_19109449del | NCBI36 |
| NG_031868.2:g.17703_17710del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622235.5:c.*218_*225del MANE Select | ENSP00000477564.2:n.*218_*225del | |
| ENST00000615031.4:c.*218_*225del | ENSP00000479389.1:n.*218_*225del | |
| ENST00000622235.4:c.*218_*225del | ENSP00000477564.1:n.*218_*225del | |
| ENST00000623402.1:c.*218_*225del | ENSP00000485276.1:n.*218_*225del | |
| NM_153334.6:c.*218_*225del | NP_699165.3:n.*218_*225del | |
| NM_182895.4:c.*218_*225del | NP_878315.2:n.*218_*225del | |
| NM_153334.7:c.*218_*225del | NP_699165.3:n.*218_*225del | |
| NM_182895.5:c.*218_*225del MANE Select | NP_878315.2:n.*218_*225del |