Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154997099del , CM000685.2:g.154997099del | GRCh38 |
| NC_000023.10:g.154225374del , CM000685.1:g.154225374del | GRCh37 |
| NC_000023.9:g.153878568del | NCBI36 |
| NG_011403.1:g.30625del | |
| NG_011403.2:g.30625del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.266-4del MANE Select | ENSP00000353393.4:n.266-4del | |
| ENST00000647125.1:c.*52-4del | ENSP00000496062.1:n.*52-4del | |
| ENST00000360256.8:c.266-4del | ENSP00000353393.4:n.266-4del | |
| ENST00000423959.5:c.161-4del | ENSP00000409446.1:n.161-4del | |
| ENST00000453950.1:c.248-4del | ENSP00000389153.1:n.248-4del | |
| NM_000132.3:c.266-4del | NP_000123.1:n.266-4del | |
| XM_011531126.1:c.161-4del | XP_011529428.1:n.161-4del | |
| NM_000132.4:c.266-4del MANE Select | NP_000123.1:n.266-4del |