Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10658809_10658816del , CM000682.2:g.10658809_10658816del | GRCh38 |
| NC_000020.10:g.10639457_10639464del , CM000682.1:g.10639457_10639464del | GRCh37 |
| NC_000020.9:g.10587457_10587464del | NCBI36 |
| NG_007496.1:g.20231_20238del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.440-94_440-87del MANE Select | ENSP00000254958.4:n.440-94_440-87del | |
| ENST00000254958.9:c.440-94_440-87del | ENSP00000254958.4:n.440-94_440-87del | |
| ENST00000423891.6:n.306-94_306-87del | ||
| NM_000214.2:c.440-94_440-87del | NP_000205.1:n.440-94_440-87del | |
| NM_000214.3:c.440-94_440-87del MANE Select | NP_000205.1:n.440-94_440-87del |