Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10641826_10641827del , CM000682.2:g.10641826_10641827del | GRCh38 |
| NC_000020.10:g.10622474_10622475del , CM000682.1:g.10622474_10622475del | GRCh37 |
| NC_000020.9:g.10570474_10570475del | NCBI36 |
| NG_007496.1:g.37221_37222del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000214.3:c.2639_2640del MANE Select | NP_000205.1:p.Cys880Ter |
| ENST00000254958.10:c.2639_2640del MANE Select | ENSP00000254958.4:p.Cys880Ter |
| NM_000214.2:c.2639_2640del | NP_000205.1:p.Cys880Ter |
| ENST00000254958.9:c.2639_2640del | ENSP00000254958.4:p.Cys880Ter |
| ENST00000423891.6:n.2505_2506del | |
| ENST00000617965.2:n.3228_3229del |