Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73404165_73404172del , CM000666.2:g.73404165_73404172del | GRCh38 |
| NC_000004.11:g.74269882_74269889del , CM000666.1:g.74269882_74269889del | GRCh37 |
| NC_000004.10:g.74488746_74488753del | NCBI36 |
| NG_009291.1:g.4911_4918del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000441319.5:c.48-204_48-197del | ENSP00000392541.1:n.48-204_48-197del |