Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10644353_10644356del , CM000682.2:g.10644353_10644356del | GRCh38 |
| NC_000020.10:g.10625001_10625004del , CM000682.1:g.10625001_10625004del | GRCh37 |
| NC_000020.9:g.10573001_10573004del | NCBI36 |
| NG_007496.1:g.34693_34696del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000214.3:c.2372+3_2372+6del MANE Select | NP_000205.1:n.2372+3_2372+6del |
| ENST00000254958.10:c.2372+3_2372+6del MANE Select | ENSP00000254958.4:n.2372+3_2372+6del |
| NM_000214.2:c.2372+3_2372+6del | NP_000205.1:n.2372+3_2372+6del |
| ENST00000254958.9:c.2372+3_2372+6del | ENSP00000254958.4:n.2372+3_2372+6del |
| ENST00000423891.6:n.2238+3_2238+6del | |
| ENST00000617965.2:n.2961+3_2961+6del |