Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10141635_10149787del , CM000665.2:g.10141635_10149787del | GRCh38 |
| NC_000003.11:g.10183319_10191471del , CM000665.1:g.10183319_10191471del | GRCh37 |
| NC_000003.10:g.10158319_10166471del | NCBI36 |
| NG_008212.3:g.5001_13153del , LRG_322:g.5001_13153del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000256474.2:c.-213_464del | ||
| NM_000551.3:c.-213_464del , LRG_322t1:c.-213_464del | ||
| NM_198156.2:c.-213_341del | ||
| NM_001354723.1:c.-213_*18del |