Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.92639904del , CM000672.2:g.92639904del | GRCh38 |
| NC_000010.10:g.94399661del , CM000672.1:g.94399661del | GRCh37 |
| NC_000010.9:g.94389641del | NCBI36 |
| NG_032580.1:g.51837del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260731.5:c.2267+4del MANE Select | ENSP00000260731.3:n.2267+4del | |
| ENST00000676621.1:c.*785+4del | ENSP00000503639.1:n.*785+4del | |
| ENST00000676647.1:c.2060+4del | ENSP00000503394.1:n.2060+4del | |
| ENST00000676757.1:c.2060+4del | ENSP00000504289.1:n.2060+4del | |
| ENST00000677720.1:c.*241+4del | ENSP00000504840.1:n.*241+4del | |
| ENST00000260731.4:c.2267+4del | ENSP00000260731.3:n.2267+4del | |
| NM_004523.3:c.2267+4del | NP_004514.2:n.2267+4del | |
| NM_004523.4:c.2267+4del MANE Select | NP_004514.2:n.2267+4del |