Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226713_5226724del , CM000673.2:g.5226713_5226724del | GRCh38 |
| NC_000011.9:g.5247943_5247954del , CM000673.1:g.5247943_5247954del | GRCh37 |
| NC_000011.8:g.5204519_5204530del | NCBI36 |
| NG_000007.3:g.70894_70905del | |
| NG_059281.1:g.5350_5361del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.170_181del | ENSP00000494175.1:p.Gly57_Lys60del | |
| ENST00000335295.4:c.170_181del MANE Select | ENSP00000333994.3:p.Gly57_Lys60del | |
| ENST00000380315.2:c.170_181del | ENSP00000369671.2:p.Gly57_Lys60del | |
| ENST00000475226.1:n.102_113del | ||
| ENST00000485743.1:n.221_232del | ||
| ENST00000633227.1:c.154_165del | ENSP00000488004.1:p.Ala52_Arg55del | |
| NM_000518.4:c.170_181del | NP_000509.1:p.Gly57_Lys60del | |
| NM_000518.5:c.170_181del MANE Select | NP_000509.1:p.Gly57_Lys60del |