Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38408874_38408889del , CM000685.2:g.38408874_38408889del | GRCh38 |
| NC_000023.10:g.38268127_38268142del , CM000685.1:g.38268127_38268142del | GRCh37 |
| NC_000023.9:g.38153071_38153086del | NCBI36 |
| NG_008471.1:g.61392_61407del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000531.5:c.718-2_731del | |
| NM_000531.6:c.718-2_731del | |
| ENST00000039007.4:c.718-2_731del | |
| ENST00000039007.5:c.718-2_731del | |
| ENST00000465127.1:c.172-257247_172-257232del | ENSP00000417050.1:n.172-257247_172-257232del |
| ENST00000643344.1:c.*468-2_*481del | |
| XM_017029556.1:c.718-2_731del |