Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5225488_5225489del , CM000673.2:g.5225488_5225489del | GRCh38 |
| NC_000011.9:g.5246718_5246719del , CM000673.1:g.5246718_5246719del | GRCh37 |
| NC_000011.8:g.5203294_5203295del | NCBI36 |
| NG_000007.3:g.72128_72129del | |
| NG_059281.1:g.6584_6585del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.*110_*111del | ENSP00000494175.1:n.*110_*111del | |
| ENST00000335295.4:c.*110_*111del MANE Select | ENSP00000333994.3:n.*110_*111del | |
| ENST00000633227.1:c.*370_*371del | ENSP00000488004.1:n.*370_*371del | |
| NM_000518.4:c.*110_*111del | NP_000509.1:n.*110_*111del | |
| NM_000518.5:c.*110_*111del MANE Select | NP_000509.1:n.*110_*111del |