Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10658393_10658394del , CM000682.2:g.10658393_10658394del | GRCh38 |
| NC_000020.10:g.10639041_10639042del , CM000682.1:g.10639041_10639042del | GRCh37 |
| NC_000020.9:g.10587041_10587042del | NCBI36 |
| NG_007496.1:g.20653_20654del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.694+74_694+75del MANE Select | ENSP00000254958.4:n.694+74_694+75del | |
| ENST00000254958.9:c.694+74_694+75del | ENSP00000254958.4:n.694+74_694+75del | |
| ENST00000423891.6:n.560+74_560+75del | ||
| NM_000214.2:c.694+74_694+75del | NP_000205.1:n.694+74_694+75del | |
| NM_000214.3:c.694+74_694+75del MANE Select | NP_000205.1:n.694+74_694+75del |