Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47332677_47333963del , CM000673.2:g.47332677_47333963del | GRCh38 |
| NC_000011.9:g.47354228_47355514del , CM000673.1:g.47354228_47355514del | GRCh37 |
| NC_000011.8:g.47310804_47312090del | NCBI36 |
| NG_007667.1:g.23743_25029del , LRG_386:g.23743_25029del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545968.6:c.2956_3519del | ||
| ENST00000256993.8:c.2956_3519del | ||
| ENST00000399249.6:c.2956_3519del | ||
| ENST00000545968.5:c.2956_3519del | ||
| NM_000256.3:c.2956_3519del , LRG_386t1:c.2956_3519del | ||
| XM_011520117.1:c.2938_3501del | ||
| XM_011520118.1:c.2875_3438del |