dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173511_173522del , CM000678.2:g.173511_173522del | GRCh38 |
| NC_000016.9:g.223510_223521del , CM000678.1:g.223510_223521del | GRCh37 |
| NC_000016.8:g.163510_163521del | NCBI36 |
| NG_000006.1:g.34374_34385del | |
| NG_059186.1:g.1861_1872del | |
| NG_059271.1:g.5665_5676del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.340_351del MANE Select | ENSP00000251595.6:p.Leu114_Glu117del | |
| ENST00000251595.10:c.340_351del | ENSP00000251595.6:p.Leu114_Glu117del | |
| ENST00000397806.1:c.244_255del | ENSP00000380908.1:p.Leu82_Glu85del | |
| ENST00000482565.1:n.476_487del | ||
| NM_000517.4:c.340_351del | NP_000508.1:p.Leu114_Glu117del | |
| NM_000517.6:c.340_351del MANE Select | NP_000508.1:p.Leu114_Glu117del |