Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.119320836_119320838del , CM000666.2:g.119320836_119320838del | GRCh38 |
| NC_000004.11:g.120241991_120241993del , CM000666.1:g.120241991_120241993del | GRCh37 |
| NC_000004.10:g.120461439_120461441del | NCBI36 |
| NG_011444.1:g.6326_6328del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274024.4:c.74_76del MANE Select | ENSP00000274024.3:p.Asn25del | |
| ENST00000274024.3:c.74_76del | ENSP00000274024.3:p.Asn25del | |
| NM_000134.3:c.74_76del | NP_000125.2:p.Asn25del | |
| NM_000134.4:c.74_76del MANE Select | NP_000125.2:p.Asn25del |