Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.18400555_18400557del , CM000670.2:g.18400555_18400557del | GRCh38 |
| NC_000008.10:g.18258065_18258067del , CM000670.1:g.18258065_18258067del | GRCh37 |
| NC_000008.9:g.18302345_18302347del | NCBI36 |
| NG_012246.1:g.14311_14313del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000015.3:c.552_554del MANE Select | NP_000006.2:p.Lys185del |
| ENST00000286479.4:c.552_554del MANE Select | ENSP00000286479.3:p.Lys185del |
| NM_000015.2:c.552_554del | NP_000006.2:p.Lys185del |
| ENST00000286479.3:c.552_554del | ENSP00000286479.3:p.Lys185del |
| ENST00000520116.1:c.162_164del | ENSP00000428416.1:p.Lys55del |
| XM_011544358.1:c.552_554del | XP_011542660.1:p.Lys185del |
| XM_017012938.1:c.552_554del | XP_016868427.1:p.Lys185del |