Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.101244505del , CM000665.2:g.101244505del | GRCh38 |
| NC_000003.11:g.100963349del , CM000665.1:g.100963349del | GRCh37 |
| NC_000003.10:g.102446039del | NCBI36 |
| NG_028284.1:g.81071del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000193391.8:c.1826del MANE Select | ENSP00000193391.6:p.Val609GlufsTer3 | |
| ENST00000193391.7:c.1826del | ENSP00000193391.6:p.Val609GlufsTer3 | |
| NM_016247.3:c.1826del | NP_057331.2:p.Val609GlufsTer3 | |
| XM_011512871.1:c.1532del | XP_011511173.1:p.Val511GlufsTer3 | |
| XM_011512872.1:c.1415del | XP_011511174.1:p.Val472GlufsTer3 | |
| NM_016247.4:c.1826del MANE Select | NP_057331.2:p.Val609GlufsTer3 |