Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10142158_10142207del , CM000665.2:g.10142158_10142207del | GRCh38 |
| NC_000003.11:g.10183842_10183891del , CM000665.1:g.10183842_10183891del | GRCh37 |
| NC_000003.10:g.10158842_10158891del | NCBI36 |
| NG_008212.3:g.5524_5573del , LRG_322:g.5524_5573del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696142.1:c.311_340+20del | ||
| ENST00000696143.1:c.311_340+20del | ||
| ENST00000696153.1:c.311_340+20del | ||
| ENST00000256474.3:c.311_340+20del | ||
| ENST00000256474.2:c.311_340+20del | ||
| ENST00000345392.2:c.311_340+20del | ||
| NM_000551.3:c.311_340+20del , LRG_322t1:c.311_340+20del | ||
| NM_198156.2:c.311_340+20del | ||
| XM_011534078.1:c.311_340+20del | ||
| NM_001354723.1:c.311_340+20del | ||
| NM_000551.4:c.311_340+20del | ||
| NM_001354723.2:c.311_340+20del | ||
| NM_198156.3:c.311_340+20del |