Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135028521del , CM000667.2:g.135028521del | GRCh38 |
| NC_000005.9:g.134364211del , CM000667.1:g.134364211del | GRCh37 |
| NC_000005.8:g.134392110del | NCBI36 |
| NG_012114.1:g.10754del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265340.12:c.*258del MANE Select | ENSP00000265340.6:n.*258del | |
| ENST00000265340.11:c.*258del | ENSP00000265340.6:n.*258del | |
| NM_002653.4:c.*258del | NP_002644.4:n.*258del | |
| NM_002653.5:c.*258del MANE Select | NP_002644.4:n.*258del |