Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.1650639_1650649del , CM000679.2:g.1650639_1650649del | GRCh38 |
| NC_000017.10:g.1553933_1553943del , CM000679.1:g.1553933_1553943del | GRCh37 |
| NC_000017.9:g.1500683_1500693del | NCBI36 |
| NG_009118.1:g.39240_39250del | |
| NG_033061.1:g.4456_4466del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304992.11:c.*159_*169del MANE Select | ENSP00000304350.6:n.*159_*169del | |
| ENST00000304992.10:c.*159_*169del | ENSP00000304350.6:n.*159_*169del | |
| ENST00000571958.1:c.366_376del | ||
| ENST00000572621.5:c.*159_*169del | ENSP00000460348.1:n.*159_*169del | |
| NM_006445.3:c.*159_*169del | NP_006436.3:n.*159_*169del | |
| XM_024450537.1:c.*159_*169del | XP_024306305.1:n.*159_*169del | |
| NM_006445.4:c.*159_*169del MANE Select | NP_006436.3:n.*159_*169del |