Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.68670132_68670139delinsCAGCCAGT , CM000666.2:g.68670132_68670139delinsCAGCCAGT | GRCh38 |
| NC_000004.11:g.69535850_69535857delinsCAGCCAGT , CM000666.1:g.69535850_69535857delinsCAGCCAGT | GRCh37 |
| NC_000004.10:g.69218445_69218452delinsCAGCCAGT | NCBI36 |
| NG_052676.1:g.5638_5645delinsACTGGCTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338206.6:c.480_487delinsACTGGCTG MANE Select | ENSP00000341045.5:p.Leu160= | |
| ENST00000338206.5:c.480_487delinsACTGGCTG | ENSP00000341045.5:p.Leu160= | |
| ENST00000616841.4:c.480_487delinsACTGGCTG | ENSP00000482004.1:p.Leu160= | |
| NM_001076.3:c.480_487delinsACTGGCTG | NP_001067.2:p.Leu160= | |
| NM_001076.4:c.480_487delinsACTGGCTG MANE Select | NP_001067.2:p.Leu160= |