Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.10127725_10127726del , CM000679.2:g.10127725_10127726del | GRCh38 |
| NC_000017.10:g.10031042_10031043del , CM000679.1:g.10031042_10031043del | GRCh37 |
| NC_000017.9:g.9971767_9971768del | NCBI36 |
| NG_029502.1:g.75826_75827del | |
| NG_029502.2:g.75826_75827del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000432992.7:c.183+70482_183+70483del MANE Select | ENSP00000407552.2:n.183+70482_183+70483del | |
| ENST00000432992.6:c.183+70482_183+70483del | ENSP00000407552.2:n.183+70482_183+70483del | |
| NM_201433.1:c.183+70482_183+70483del | NP_958839.1:n.183+70482_183+70483del | |
| NM_201433.2:c.183+70482_183+70483del MANE Select | NP_958839.1:n.183+70482_183+70483del |