Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10644647_10644747del , CM000682.2:g.10644647_10644747del | GRCh38 |
| NC_000020.10:g.10625295_10625395del , CM000682.1:g.10625295_10625395del | GRCh37 |
| NC_000020.9:g.10573295_10573395del | NCBI36 |
| NG_007496.1:g.34309_34409del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.2344+125_2344+225del MANE Select | ENSP00000254958.4:n.2344+125_2344+225del | |
| ENST00000617965.2:n.2933+125_2933+225del | ||
| ENST00000254958.9:c.2344+125_2344+225del | ENSP00000254958.4:n.2344+125_2344+225del | |
| ENST00000423891.6:n.2210+125_2210+225del | ||
| ENST00000488480.2:n.866_966del | ||
| NM_000214.2:c.2344+125_2344+225del | NP_000205.1:n.2344+125_2344+225del | |
| NM_000214.3:c.2344+125_2344+225del MANE Select | NP_000205.1:n.2344+125_2344+225del |