Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.191014605_191014608del , CM000664.2:g.191014605_191014608del | GRCh38 |
| NC_000002.11:g.191879331_191879334del , CM000664.1:g.191879331_191879334del | GRCh37 |
| NC_000002.10:g.191587576_191587579del | NCBI36 |
| NG_008294.1:g.4645_4648del , LRG_111:g.4645_4648del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000432058.1:c.-155-928_-155-925del | ENSP00000416019.1:n.-155-928_-155-925del | |
| ENST00000454414.5:c.-1-4602_-1-4599del | ENSP00000411398.1:n.-1-4602_-1-4599del |