Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34371886_34371888del , CM000671.2:g.34371886_34371888del | GRCh38 |
| NC_000009.11:g.34371884_34371886del , CM000671.1:g.34371884_34371886del | GRCh37 |
| NC_000009.10:g.34361884_34361886del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020702.5:c.1060_1062del MANE Select | NP_065753.2:p.Asp354del |
| ENST00000297625.8:c.1060_1062del MANE Select | ENSP00000297625.8:p.Asp354del |
| NM_020702.4:c.1060_1062del | NP_065753.2:p.Asp354del |
| ENST00000297625.7:c.1060_1062del | ENSP00000297625.8:p.Asp354del |
| XM_011517966.1:c.1060_1062del | XP_011516268.1:p.Asp354del |
| XM_011517966.3:c.1060_1062del | XP_011516268.1:p.Asp354del |
| XM_017014930.2:c.1060_1062del | XP_016870419.1:p.Asp354del |