Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47333557del , CM000673.2:g.47333557del | GRCh38 |
| NC_000011.9:g.47355108del , CM000673.1:g.47355108del | GRCh37 |
| NC_000011.8:g.47311684del | NCBI36 |
| NG_007667.1:g.24147del , LRG_386:g.24147del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545968.6:c.3190+1del | ||
| ENST00000256993.8:c.3190+1del | ||
| ENST00000399249.6:c.3190+1del | ||
| ENST00000545968.5:c.3190+1del | ||
| NM_000256.3:c.3190+1del , LRG_386t1:c.3190+1del | ||
| XM_011520117.1:c.3172+1del | ||
| XM_011520118.1:c.3109+1del |