Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23424042_23424044del , CM000676.2:g.23424042_23424044del | GRCh38 |
| NC_000014.8:g.23893251_23893253del , CM000676.1:g.23893251_23893253del | GRCh37 |
| NC_000014.7:g.22963091_22963093del | NCBI36 |
| NG_007884.1:g.16624_16626del , LRG_384:g.16624_16626del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355349.4:c.2791_2793del MANE Select | ENSP00000347507.3:p.Glu931del | |
| ENST00000355349.3:c.2791_2793del | ENSP00000347507.3:p.Glu931del | |
| NM_000257.3:c.2791_2793del | NP_000248.2:p.Glu931del | |
| XR_245686.3:n.2897_2899del | ||
| XM_017021340.1:c.2791_2793del | XP_016876829.1:p.Glu931del | |
| NM_000257.4:c.2791_2793del MANE Select | NP_000248.2:p.Glu931del |