Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226626_5226627del , CM000673.2:g.5226626_5226627del | GRCh38 |
| NC_000011.9:g.5247856_5247857del , CM000673.1:g.5247856_5247857del | GRCh37 |
| NC_000011.8:g.5204432_5204433del | NCBI36 |
| NG_000007.3:g.70989_70990del | |
| NG_059281.1:g.5445_5446del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.265_266del | ENSP00000494175.1:p.Leu89GlufsTer2 | |
| ENST00000335295.4:c.265_266del MANE Select | ENSP00000333994.3:p.Leu89GlufsTer2 | |
| ENST00000380315.2:c.265_266del | ENSP00000369671.2:p.Leu89GlufsTer2 | |
| ENST00000475226.1:n.197_198del | ||
| ENST00000485743.1:n.316_317del | ||
| ENST00000633227.1:c.*81_*82del | ENSP00000488004.1:n.*81_*82del | |
| NM_000518.4:c.265_266del | NP_000509.1:p.Leu89GlufsTer2 | |
| NM_000518.5:c.265_266del MANE Select | NP_000509.1:p.Leu89GlufsTer2 |