Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.34008116_34008136del , CM000667.2:g.34008116_34008136del | GRCh38 |
| NC_000005.9:g.34008221_34008241del , CM000667.1:g.34008221_34008241del | GRCh37 |
| NC_000005.8:g.34043978_34043998del | NCBI36 |
| NG_016211.1:g.4980_5000del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382079.3:c.690-2237_690-2217del | ENSP00000371511.3:n.690-2237_690-2217del | |
| NR_037951.1:n.765-2237_765-2217del |