Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.68646749_68646750del , CM000666.2:g.68646749_68646750del | GRCh38 |
| NC_000004.11:g.69512467_69512468del , CM000666.1:g.69512467_69512468del | GRCh37 |
| NC_000004.10:g.69195062_69195063del | NCBI36 |
| NG_052676.1:g.29032_29033del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338206.6:c.*359_*360del MANE Select | ENSP00000341045.5:n.*359_*360del | |
| ENST00000338206.5:c.*359_*360del | ENSP00000341045.5:n.*359_*360del | |
| ENST00000616841.4:c.1732+220_1732+221del | ENSP00000482004.1:n.1732+220_1732+221del | |
| NM_001076.3:c.*359_*360del | NP_001067.2:n.*359_*360del | |
| NM_001076.4:c.*359_*360del MANE Select | NP_001067.2:n.*359_*360del |