Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5225644_5225664del , CM000673.2:g.5225644_5225664del | GRCh38 |
| NC_000011.9:g.5246874_5246894del , CM000673.1:g.5246874_5246894del | GRCh37 |
| NC_000011.8:g.5203450_5203470del | NCBI36 |
| NG_000007.3:g.71956_71976del | |
| NG_059281.1:g.6412_6432del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.382_402del | ENSP00000494175.1:p.Gln128_Val134del | |
| ENST00000335295.4:c.382_402del MANE Select | ENSP00000333994.3:p.Gln128_Val134del | |
| ENST00000633227.1:c.*198_*218del | ENSP00000488004.1:n.*198_*218del | |
| NM_000518.4:c.382_402del | NP_000509.1:p.Gln128_Val134del | |
| NM_000518.5:c.382_402del MANE Select | NP_000509.1:p.Gln128_Val134del |