Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89776918_89776941del , CM000677.2:g.89776918_89776941del | GRCh38 |
| NC_000015.9:g.90320149_90320172del , CM000677.1:g.90320149_90320172del | GRCh37 |
| NC_000015.8:g.88121153_88121176del | NCBI36 |
| NG_008608.1:g.5561_5584del | |
| NG_008608.2:g.21328_21351del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341735.5:c.561_584del MANE Select | ENSP00000342392.3:p.Gln188_Gly195del | |
| ENST00000341735.3:c.561_584del | ENSP00000342392.3:p.Gln188_Gly195del | |
| ENST00000558723.1:n.39-1147_39-1124del | ||
| ENST00000560219.2:c.31-1147_31-1124del | ENSP00000452998.1:n.31-1147_31-1124del | |
| NM_001039958.1:c.561_584del | NP_001035047.1:p.Gln188_Gly195del | |
| NM_001039958.2:c.561_584del MANE Select | NP_001035047.1:p.Gln188_Gly195del |