Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99420566del , CM000666.2:g.99420566del | GRCh38 |
| NC_000004.11:g.100341723del , CM000666.1:g.100341723del | GRCh37 |
| NC_000004.10:g.100560746del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000437033.7:c.792del MANE Select | ENSP00000414254.2:p.Tyr264Ter | |
| ENST00000209665.8:c.828del | ENSP00000209665.4:p.Tyr276Ter | |
| ENST00000437033.6:c.792del | ENSP00000414254.2:p.Tyr264Ter | |
| ENST00000476959.5:c.852del | ENSP00000420269.1:p.Tyr284Ter | |
| ENST00000482593.5:c.621del | ENSP00000420613.1:p.Tyr207Ter | |
| NM_000673.4:c.828del | NP_000664.2:p.Tyr276Ter | |
| NM_001166504.1:c.852del | NP_001159976.1:p.Tyr284Ter | |
| NM_000673.7:c.792del MANE Select | NP_000664.3:p.Tyr264Ter | |
| NM_001166504.2:c.852del | NP_001159976.1:p.Tyr284Ter |