Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.4369966_4369971del , CM000674.2:g.4369966_4369971del | GRCh38 |
| NC_000012.11:g.4479132_4479137del , CM000674.1:g.4479132_4479137del | GRCh37 |
| NC_000012.10:g.4349393_4349398del | NCBI36 |
| NG_007087.1:g.14758_14763del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020638.3:c.*372_*377del MANE Select | NP_065689.1:n.*372_*377del |
| ENST00000237837.2:c.*372_*377del MANE Select | ENSP00000237837.1:n.*372_*377del |
| NM_020638.2:c.*372_*377del | NP_065689.1:n.*372_*377del |
| ENST00000237837.1:c.*372_*377del | ENSP00000237837.1:n.*372_*377del |
| ENST00000648100.1:c.*1967+3684_*1967+3689del | ENSP00000497536.1:n.*1967+3684_*1967+3689del |
| ENST00000674624.1:c.*1204+3684_*1204+3689del | ENSP00000501898.1:n.*1204+3684_*1204+3689del |