Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52038258_52038280del , CM000666.2:g.52038258_52038280del | GRCh38 |
| NC_000004.11:g.52904424_52904446del , CM000666.1:g.52904424_52904446del | GRCh37 |
| NC_000004.10:g.52599181_52599203del | NCBI36 |
| NG_008891.1:g.5046_5068del , LRG_204:g.5046_5068del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000232.4:c.-15_8del , LRG_204t1:c.-15_8del | |
| NM_000232.5:c.-15_8del | |
| ENST00000381431.10:c.-15_8del | |
| ENST00000381431.9:c.-15_8del | |
| XM_011534403.1:c.-15_8del |