Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.176119432_176119433del , CM000664.2:g.176119432_176119433del | GRCh38 |
| NC_000002.11:g.176984160_176984161del , CM000664.1:g.176984160_176984161del | GRCh37 |
| NC_000002.10:g.176692406_176692407del | NCBI36 |
| NG_008133.2:g.12669_12670del , LRG_246:g.12669_12670del | |
| NG_009225.1:g.1748_1749del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249501.5:c.*201_*202del MANE Select | ENSP00000249501.4:n.*201_*202del | |
| ENST00000249501.4:c.*201_*202del | ENSP00000249501.4:n.*201_*202del | |
| NM_002148.3:c.*201_*202del , LRG_246t1:c.*201_*202del | NP_002139.2:n.*201_*202del | |
| NM_002148.4:c.*201_*202del MANE Select | NP_002139.2:n.*201_*202del |