Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10148561_10152736del , CM000665.2:g.10148561_10152736del | GRCh38 |
| NC_000003.11:g.10190245_10194420del , CM000665.1:g.10190245_10194420del | GRCh37 |
| NC_000003.10:g.10165245_10169420del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000551.4:c.464-1226_*2771del | |
| NM_001354723.2:c.*18-1226_*2967del | |
| NM_198156.3:c.341-1226_*2771del | |
| ENST00000256474.3:c.464-1226_*2771del | |
| ENST00000696153.1:c.464-143_*2771del |