Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41584098_41584099del , CM000679.2:g.41584098_41584099del | GRCh38 |
| NC_000017.10:g.39740350_39740351del , CM000679.1:g.39740350_39740351del | GRCh37 |
| NC_000017.9:g.36993876_36993877del | NCBI36 |
| NG_008624.1:g.7797_7798del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.765+158_765+159del MANE Select | ENSP00000167586.6:n.765+158_765+159del | |
| ENST00000167586.6:c.765+158_765+159del | ENSP00000167586.6:n.765+158_765+159del | |
| ENST00000476662.1:n.215+158_215+159del | ||
| NM_000526.4:c.765+158_765+159del | NP_000517.2:n.765+158_765+159del | |
| NM_000526.5:c.765+158_765+159del MANE Select | NP_000517.3:n.765+158_765+159del |