Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10142071_10149891del , CM000665.2:g.10142071_10149891del | GRCh38 |
| NC_000003.11:g.10183755_10191575del , CM000665.1:g.10183755_10191575del | GRCh37 |
| NC_000003.10:g.10158755_10166575del | NCBI36 |
| NG_008212.3:g.5437_13257del , LRG_322:g.5437_13257del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696142.1:c.224_*245del | ||
| ENST00000696143.1:c.224_704del | ||
| ENST00000696153.1:c.224_679del | ||
| ENST00000256474.3:c.224_568del | ||
| ENST00000256474.2:c.224_568del | ||
| ENST00000345392.2:c.224_445del | ||
| NM_000551.3:c.224_568del , LRG_322t1:c.224_568del | ||
| NM_198156.2:c.224_445del | ||
| NM_001354723.1:c.224_*122del | ||
| NM_000551.4:c.224_568del | ||
| NM_001354723.2:c.224_*122del | ||
| NM_198156.3:c.224_445del |