Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.18400327_18400332del , CM000670.2:g.18400327_18400332del | GRCh38 |
| NC_000008.10:g.18257837_18257842del , CM000670.1:g.18257837_18257842del | GRCh37 |
| NC_000008.9:g.18302117_18302122del | NCBI36 |
| NG_012246.1:g.14083_14088del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286479.4:c.324_329del MANE Select | ENSP00000286479.3:p.Leu109_Leu110del | |
| ENST00000286479.3:c.324_329del | ENSP00000286479.3:p.Leu109_Leu110del | |
| ENST00000520116.1:c.-57-10_-57-5del | ENSP00000428416.1:n.-57-10_-57-5del | |
| NM_000015.2:c.324_329del | NP_000006.2:p.Leu109_Leu110del | |
| XM_011544358.1:c.324_329del | XP_011542660.1:p.Leu109_Leu110del | |
| XM_017012938.1:c.324_329del | XP_016868427.1:p.Leu109_Leu110del | |
| NM_000015.3:c.324_329del MANE Select | NP_000006.2:p.Leu109_Leu110del |