Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148994531_148994532del , CM000667.2:g.148994531_148994532del | GRCh38 |
| NC_000005.9:g.148374094_148374095del , CM000667.1:g.148374094_148374095del | GRCh37 |
| NC_000005.8:g.148354287_148354288del | NCBI36 |
| NG_007947.2:g.73643_73644del , LRG_269:g.73643_73644del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000515425.6:c.*10179_*10180del MANE Select | ENSP00000423660.1:n.*10179_*10180del | |
| ENST00000504690.5:c.*12+9194_*12+9195del | ENSP00000425627.1:n.*12+9194_*12+9195del | |
| ENST00000510350.1:n.231+12349_231+12350del | ||
| NM_024577.3:c.*10179_*10180del , LRG_269t1:c.*10179_*10180del | NP_078853.2:n.*10179_*10180del | |
| NM_024577.4:c.*10179_*10180del MANE Select | NP_078853.2:n.*10179_*10180del |