Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1362612del , CM000678.2:g.1362612del | GRCh38 |
| NC_000016.9:g.1412613del , CM000678.1:g.1412613del | GRCh37 |
| NC_000016.8:g.1352614del | NCBI36 |
| NG_016985.1:g.15714del | |
| NG_033129.1:g.57095del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000527168.6:n.710del | ||
| ENST00000529110.2:c.695del | ||
| ENST00000529957.6:n.669del | ||
| ENST00000683366.1:c.*343del | ||
| ENST00000683887.1:c.659del | ||
| ENST00000684100.1:n.605del | ||
| ENST00000684126.1:n.745del | ||
| ENST00000684688.1:n.1236del | ||
| ENST00000204679.9:c.611del | ||
| ENST00000204679.8:c.611del | ||
| ENST00000527076.1:n.1834del | ||
| ENST00000527168.5:n.778del | ||
| ENST00000529957.5:n.710del | ||
| NM_032520.4:c.611del | ||
| XM_017023782.1:c.659del | ||
| XM_017023783.1:c.251del | ||
| NM_032520.5:c.611del |