Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.85476916del , CM000670.2:g.85476916del | GRCh38 |
| NC_000008.10:g.86389145del , CM000670.1:g.86389145del | GRCh37 |
| NC_000008.9:g.86576397del | NCBI36 |
| NG_007287.1:g.17900del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000067.3:c.508-204del MANE Select | NP_000058.1:n.508-204del |
| ENST00000285379.10:c.508-204del MANE Select | ENSP00000285379.4:n.508-204del |
| NM_000067.2:c.508-204del | NP_000058.1:n.508-204del |
| NM_001293675.1:c.205-204del | NP_001280604.1:n.205-204del |
| NM_001293675.2:c.205-204del | NP_001280604.1:n.205-204del |
| ENST00000285379.9:c.508-204del | ENSP00000285379.4:n.508-204del |
| ENST00000520127.5:c.*95-204del | ENSP00000428443.1:n.*95-204del |
| ENST00000522742.1:c.*282-204del | ENSP00000428947.1:n.*282-204del |