Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5225562_5225572del , CM000673.2:g.5225562_5225572del | GRCh38 |
| NC_000011.9:g.5246792_5246802del , CM000673.1:g.5246792_5246802del | GRCh37 |
| NC_000011.8:g.5203368_5203378del | NCBI36 |
| NG_000007.3:g.72044_72054del | |
| NG_059281.1:g.6500_6510del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.*26_*36del | ENSP00000494175.1:n.*26_*36del | |
| ENST00000335295.4:c.*26_*36del MANE Select | ENSP00000333994.3:n.*26_*36del | |
| ENST00000633227.1:c.*286_*296del | ENSP00000488004.1:n.*286_*296del | |
| NM_000518.4:c.*26_*36del | NP_000509.1:n.*26_*36del | |
| NM_000518.5:c.*26_*36del MANE Select | NP_000509.1:n.*26_*36del |