Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173213_173215del , CM000678.2:g.173213_173215del | GRCh38 |
| NC_000016.9:g.223212_223214del , CM000678.1:g.223212_223214del | GRCh37 |
| NC_000016.8:g.163212_163214del | NCBI36 |
| NG_000006.1:g.34076_34078del | |
| NG_059186.1:g.1563_1565del | |
| NG_059271.1:g.5367_5369del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.184_186del MANE Select | ENSP00000251595.6:p.Lys62del | |
| ENST00000251595.10:c.184_186del | ENSP00000251595.6:p.Lys62del | |
| ENST00000397806.1:c.88_90del | ENSP00000380908.1:p.Lys30del | |
| ENST00000482565.1:n.320_322del | ||
| ENST00000484216.1:n.153_155del | ||
| NM_000517.4:c.184_186del | NP_000508.1:p.Lys62del | |
| NM_000517.6:c.184_186del MANE Select | NP_000508.1:p.Lys62del |