Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10145585_10153156del , CM000665.2:g.10145585_10153156del | GRCh38 |
| NC_000003.11:g.10187269_10194840del , CM000665.1:g.10187269_10194840del | GRCh37 |
| NC_000003.10:g.10162269_10169840del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000551.4:c.341-929_*3191del | |
| NM_001354723.2:c.*17+2564_*3387del | |
| NM_198156.3:c.340+3398_*3191del | |
| ENST00000256474.3:c.341-929_*3191del | |
| ENST00000696153.1:c.341-929_*3191del |