Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226863_5226864del , CM000673.2:g.5226863_5226864del | GRCh38 |
| NC_000011.9:g.5248093_5248094del , CM000673.1:g.5248093_5248094del | GRCh37 |
| NC_000011.8:g.5204669_5204670del | NCBI36 |
| NG_000007.3:g.70752_70753del | |
| NG_059281.1:g.5208_5209del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647020.1:c.93-65_93-64del | ENSP00000494175.1:n.93-65_93-64del | |
| ENST00000335295.4:c.93-65_93-64del MANE Select | ENSP00000333994.3:n.93-65_93-64del | |
| ENST00000380315.2:c.93-65_93-64del | ENSP00000369671.2:n.93-65_93-64del | |
| ENST00000485743.1:n.144-65_144-64del | ||
| ENST00000633227.1:c.77-65_77-64del | ENSP00000488004.1:n.77-65_77-64del | |
| NM_000518.4:c.93-65_93-64del | NP_000509.1:n.93-65_93-64del | |
| NM_000518.5:c.93-65_93-64del MANE Select | NP_000509.1:n.93-65_93-64del |