Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11128007_11133830del , CM000681.2:g.11128007_11133830del | GRCh38 |
| NC_000019.9:g.11238683_11244506del , CM000681.1:g.11238683_11244506del | GRCh37 |
| NC_000019.8:g.11099683_11105506del | NCBI36 |
| NG_009060.1:g.43627_49450del , LRG_274:g.43627_49450del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_000527.4:c.2312-1_*2514del , LRG_274t1:c.2312-1_*2514del | ||
| NM_001195798.1:c.2312-1_*2514del | ||
| NM_001195799.1:c.2189-1_*2514del | ||
| NM_001195800.1:c.1808-1_*2514del | ||
| NM_001195803.1:c.1778-1_*2514del |