Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229431408_229431409delinsGA , CM000663.2:g.229431408_229431409delinsGA | GRCh38 |
| NC_000001.10:g.229567155_229567156delinsGA , CM000663.1:g.229567155_229567156delinsGA | GRCh37 |
| NC_000001.9:g.227633778_227633779delinsGA | NCBI36 |
| NG_006672.1:g.7688_7689delinsTC , LRG_429:g.7688_7689delinsTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366683.4:c.*90_*91delinsTC | ENSP00000355644.4:n.*90_*91delinsTC | |
| ENST00000684723.1:c.*90_*91delinsTC | ENSP00000508084.1:n.*90_*91delinsTC | |
| ENST00000366683.3:c.*90_*91delinsTC | ENSP00000355644.3:n.*90_*91delinsTC | |
| ENST00000366684.7:c.*90_*91delinsTC MANE Select | ENSP00000355645.3:n.*90_*91delinsTC | |
| NM_001100.3:c.*90_*91delinsTC , LRG_429t1:c.*90_*91delinsTC | NP_001091.1:n.*90_*91delinsTC | |
| NM_001100.4:c.*90_*91delinsTC MANE Select | NP_001091.1:n.*90_*91delinsTC |