Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.107869772_107869777del , CM000668.2:g.107869772_107869777del | GRCh38 |
| NC_000006.11:g.108190976_108190981del , CM000668.1:g.108190976_108190981del | GRCh37 |
| NC_000006.10:g.108297669_108297674del | NCBI36 |
| NG_008270.1:g.93502_93507del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369002.9:c.*1927_*1932del MANE Select | ENSP00000357998.4:n.*1927_*1932del | |
| ENST00000369002.8:c.*1927_*1932del | ENSP00000357998.4:n.*1927_*1932del | |
| NM_007214.4:c.*1927_*1932del | NP_009145.1:n.*1927_*1932del | |
| NM_007214.5:c.*1927_*1932del MANE Select | NP_009145.1:n.*1927_*1932del |