Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10146465_10152780del , CM000665.2:g.10146465_10152780del | GRCh38 |
| NC_000003.11:g.10188149_10194464del , CM000665.1:g.10188149_10194464del | GRCh37 |
| NC_000003.10:g.10163149_10169464del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696153.1:c.341-49_*2815del | ||
| ENST00000256474.3:c.341-49_*2815del | ||
| NM_000551.4:c.341-49_*2815del | ||
| NM_001354723.2:c.*18-3322_*3011del | ||
| NM_198156.3:c.341-3322_*2815del |