Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10643777_10643780del , CM000682.2:g.10643777_10643780del | GRCh38 |
| NC_000020.10:g.10624425_10624428del , CM000682.1:g.10624425_10624428del | GRCh37 |
| NC_000020.9:g.10572425_10572428del | NCBI36 |
| NG_007496.1:g.35271_35274del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000214.2:c.2458+2_2458+5del | |
| NM_000214.3:c.2458+2_2458+5del | |
| ENST00000254958.10:c.2458+2_2458+5del | |
| ENST00000254958.9:c.2458+2_2458+5del | |
| ENST00000423891.6:n.2324+2_2324+5del | |
| ENST00000617965.2:n.3047+2_3047+5del |