Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10116425_10116426del , CM000665.2:g.10116425_10116426del | GRCh38 |
| NC_000003.11:g.10158109_10158110del , CM000665.1:g.10158109_10158110del | GRCh37 |
| NC_000003.10:g.10133109_10133110del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018462.5:c.118+606_118+607del MANE Select | NP_060932.2:n.118+606_118+607del |
| ENST00000530758.2:c.118+606_118+607del MANE Select | ENSP00000432472.1:n.118+606_118+607del |
| NM_018462.4:c.118+606_118+607del | NP_060932.2:n.118+606_118+607del |
| ENST00000530758.1:c.118+606_118+607del | ENSP00000432472.1:n.118+606_118+607del |