Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34370732_34370733insAACACAC , CM000683.2:g.34370732_34370733insAACACAC | GRCh38 |
| NC_000021.8:g.35743031_35743032insAACACAC , CM000683.1:g.35743031_35743032insAACACAC | GRCh37 |
| NC_000021.7:g.34664901_34664902insAACACAC | NCBI36 |
| NG_008804.1:g.11709_11710insAACACAC , LRG_291:g.11709_11710insAACACAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290310.4:c.254_255insAACACAC MANE Select | ENSP00000290310.2:p.His85GlnfsTer30 | |
| ENST00000290310.3:c.254_255insAACACAC | ENSP00000290310.2:p.His85GlnfsTer30 | |
| NM_172201.1:c.254_255insAACACAC , LRG_291t1:c.254_255insAACACAC | NP_751951.1:p.His85GlnfsTer30 | |
| XR_937683.1:n.588_589insGTGTGTT | ||
| XR_937684.1:n.588_589insGTGTGTT | ||
| XR_001755012.2:n.709_710insGTGTGTT | ||
| XR_001755013.2:n.588_589insGTGTGTT | ||
| XR_937683.2:n.588_589insGTGTGTT | ||
| NM_172201.2:c.254_255insAACACAC MANE Select | NP_751951.1:p.His85GlnfsTer30 |