Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135787952_135787955delinsTTTC , CM000664.2:g.135787952_135787955delinsTTTC | GRCh38 |
| NC_000002.11:g.136545522_136545525delinsTTTC , CM000664.1:g.136545522_136545525delinsTTTC | GRCh37 |
| NC_000002.10:g.136261992_136261995delinsTTTC | NCBI36 |
| NG_008104.2:g.72215_72218delinsGAAA , LRG_338:g.72215_72218delinsGAAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264162.7:c.*369_*372delinsGAAA MANE Select | ENSP00000264162.2:n.*369_*372delinsGAAA | |
| ENST00000264162.6:c.*369_*372delinsGAAA | ENSP00000264162.2:n.*369_*372delinsGAAA | |
| NM_002299.2:c.*369_*372delinsGAAA , LRG_338t1:c.*369_*372delinsGAAA | NP_002290.2:n.*369_*372delinsGAAA | |
| NM_002299.3:c.*369_*372delinsGAAA | NP_002290.2:n.*369_*372delinsGAAA | |
| NM_002299.4:c.*369_*372delinsGAAA MANE Select | NP_002290.2:n.*369_*372delinsGAAA |