Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10658969_10658970del , CM000682.2:g.10658969_10658970del | GRCh38 |
| NC_000020.10:g.10639617_10639618del , CM000682.1:g.10639617_10639618del | GRCh37 |
| NC_000020.9:g.10587617_10587618del | NCBI36 |
| NG_007496.1:g.20077_20078del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.440-248_440-247del MANE Select | ENSP00000254958.4:n.440-248_440-247del | |
| ENST00000254958.9:c.440-248_440-247del | ENSP00000254958.4:n.440-248_440-247del | |
| ENST00000423891.6:n.306-248_306-247del | ||
| NM_000214.2:c.440-248_440-247del | NP_000205.1:n.440-248_440-247del | |
| NM_000214.3:c.440-248_440-247del MANE Select | NP_000205.1:n.440-248_440-247del |