Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.138749167del , CM000669.2:g.138749167del | GRCh38 |
| NC_000007.13:g.138433912del , CM000669.1:g.138433912del | GRCh37 |
| NC_000007.12:g.138084452del | NCBI36 |
| NG_008145.1:g.54031del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020632.2:c.1180+1del | |
| NM_020632.3:c.1180+1del | |
| NM_130840.2:c.1180+1del | |
| NM_130840.3:c.1180+1del | |
| NM_130841.2:c.1180+1del | |
| NM_130841.3:c.1180+1del | |
| ENST00000310018.6:c.1180+1del | |
| ENST00000310018.7:c.1180+1del | |
| ENST00000353492.4:c.1180+1del | |
| ENST00000393054.5:c.1180+1del | |
| ENST00000478480.1:n.667+1del | |
| ENST00000478480.2:c.406+1del | |
| ENST00000644341.1:c.406+1del | |
| ENST00000645515.1:c.1180+1del | |
| ENST00000647427.1:c.73+1del | |
| XM_005250393.1:c.1180+1del | |
| XM_005250394.2:c.1180+1del | |
| XM_005250394.3:c.1180+1del |