Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41584099_41584113del , CM000679.2:g.41584099_41584113del | GRCh38 |
| NC_000017.10:g.39740351_39740365del , CM000679.1:g.39740351_39740365del | GRCh37 |
| NC_000017.9:g.36993877_36993891del | NCBI36 |
| NG_008624.1:g.7783_7797del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.765+144_765+158del MANE Select | ENSP00000167586.6:n.765+144_765+158del | |
| ENST00000167586.6:c.765+144_765+158del | ENSP00000167586.6:n.765+144_765+158del | |
| ENST00000476662.1:n.215+144_215+158del | ||
| NM_000526.4:c.765+144_765+158del | NP_000517.2:n.765+144_765+158del | |
| NM_000526.5:c.765+144_765+158del MANE Select | NP_000517.3:n.765+144_765+158del |