Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31269882_31270045del , CM000668.2:g.31269882_31270045del | GRCh38 |
| NC_000006.11:g.31237659_31237822del , CM000668.1:g.31237659_31237822del | GRCh37 |
| NC_000006.10:g.31345638_31345801del | NCBI36 |
| NG_029422.2:g.7088_7251del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.937_1015+85del | ||
| ENST00000376228.9:c.937_1015+85del | ||
| ENST00000376237.8:c.*524_*602+85del | ||
| ENST00000383329.7:c.937_1015+85del | ||
| ENST00000470363.5:n.255_418del | ||
| ENST00000487245.5:n.1296_1374+85del | ||
| NM_002117.5:c.937_1015+85del | ||
| NM_002117.6:c.937_1015+85del |