Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173693_173694del , CM000678.2:g.173693_173694del | GRCh38 |
| NC_000016.9:g.223692_223693del , CM000678.1:g.223692_223693del | GRCh37 |
| NC_000016.8:g.163692_163693del | NCBI36 |
| NG_000006.1:g.34556_34557del | |
| NG_059186.1:g.2043_2044del | |
| NG_059271.1:g.5847_5848del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.*93_*94del MANE Select | ENSP00000251595.6:n.*93_*94del | |
| ENST00000251595.10:c.*93_*94del | ENSP00000251595.6:n.*93_*94del | |
| ENST00000397806.1:c.*93_*94del | ENSP00000380908.1:n.*93_*94del | |
| NM_000517.4:c.*93_*94del | NP_000508.1:n.*93_*94del | |
| NM_000517.6:c.*93_*94del MANE Select | NP_000508.1:n.*93_*94del |