Linked Data
dbSNP Id:
rs2102734803
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229431382_229431384del , CM000663.2:g.229431382_229431384del | GRCh38 |
| NC_000001.10:g.229567129_229567131del , CM000663.1:g.229567129_229567131del | GRCh37 |
| NC_000001.9:g.227633752_227633754del | NCBI36 |
| NG_006672.1:g.7714_7716del , LRG_429:g.7714_7716del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366683.4:c.*116_*118del | ENSP00000355644.4:n.*116_*118del | |
| ENST00000684723.1:c.*116_*118del | ENSP00000508084.1:n.*116_*118del | |
| ENST00000366683.3:c.*116_*118del | ENSP00000355644.3:n.*116_*118del | |
| ENST00000366684.7:c.*116_*118del MANE Select | ENSP00000355645.3:n.*116_*118del | |
| NM_001100.3:c.*116_*118del , LRG_429t1:c.*116_*118del | NP_001091.1:n.*116_*118del | |
| NM_001100.4:c.*116_*118del MANE Select | NP_001091.1:n.*116_*118del |