Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173003_173005del , CM000678.2:g.173003_173005del | GRCh38 |
| NC_000016.9:g.223002_223004del , CM000678.1:g.223002_223004del | GRCh37 |
| NC_000016.8:g.163002_163004del | NCBI36 |
| NG_000006.1:g.33866_33868del | |
| NG_059186.1:g.1353_1355del | |
| NG_059271.1:g.5157_5159del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000517.6:c.91_93del MANE Select | NP_000508.1:p.Glu31del |
| ENST00000251595.11:c.91_93del MANE Select | ENSP00000251595.6:p.Glu31del |
| NM_000517.4:c.91_93del | NP_000508.1:p.Glu31del |
| ENST00000251595.10:c.91_93del | ENSP00000251595.6:p.Glu31del |
| ENST00000397806.1:c.-2+45_-2+47del | ENSP00000380908.1:n.-2+45_-2+47del |
| ENST00000482565.1:n.110_112del | |
| ENST00000484216.1:n.60_62del |