Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132868757del , CM000667.2:g.132868757del | GRCh38 |
| NC_000005.9:g.132204449del , CM000667.1:g.132204449del | GRCh37 |
| NC_000005.8:g.132232348del | NCBI36 |
| NG_012221.1:g.7131del | |
| NG_047051.1:g.3129del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014402.5:c.*1175del MANE Select | NP_055217.2:n.*1175del |
| ENST00000378670.8:c.*1175del MANE Select | ENSP00000367939.3:n.*1175del |
| NM_014402.4:c.*1175del | NP_055217.2:n.*1175del |