Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.69353296_69353299del , CM000674.2:g.69353296_69353299del | GRCh38 |
| NC_000012.11:g.69747076_69747079del , CM000674.1:g.69747076_69747079del | GRCh37 |
| NC_000012.10:g.68033343_68033346del | NCBI36 |
| NG_008195.1:g.9943_9946del , LRG_768:g.9943_9946del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261267.7:c.*77_*80del MANE Select | ENSP00000261267.2:n.*77_*80del | |
| ENST00000261267.6:c.*77_*80del | ENSP00000261267.2:n.*77_*80del | |
| ENST00000549690.1:c.*31_*34del | ENSP00000449898.1:n.*31_*34del | |
| NM_000239.2:c.*77_*80del , LRG_768t1:c.*77_*80del | NP_000230.1:n.*77_*80del | |
| NM_000239.3:c.*77_*80del MANE Select | NP_000230.1:n.*77_*80del |