Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5227101del , CM000673.2:g.5227101del | GRCh38 |
| NC_000011.9:g.5248331del , CM000673.1:g.5248331del | GRCh37 |
| NC_000011.8:g.5204907del | NCBI36 |
| NG_000007.3:g.70515del | |
| NG_059281.1:g.4971del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.-80del | ENSP00000494175.1:n.-80del | |
| ENST00000380315.2:c.-18-62del | ENSP00000369671.2:n.-18-62del |