Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47343258_47343261del , CM000673.2:g.47343258_47343261del | GRCh38 |
| NC_000011.9:g.47364809_47364812del , CM000673.1:g.47364809_47364812del | GRCh37 |
| NC_000011.8:g.47321385_47321388del | NCBI36 |
| NG_007667.1:g.14446_14449del , LRG_386:g.14446_14449del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545968.6:c.1226+3_1226+6del | ||
| ENST00000256993.8:c.1224-109_1224-106del | ENSP00000256993.5:n.1224-109_1224-106del | |
| ENST00000399249.6:c.1226+3_1226+6del | ||
| ENST00000544791.1:c.1226+3_1226+6del | ||
| ENST00000545968.5:c.1226+3_1226+6del | ||
| NM_000256.3:c.1226+3_1226+6del , LRG_386t1:c.1226+3_1226+6del | ||
| XM_011520117.1:c.1208+3_1208+6del | ||
| XM_011520118.1:c.1226+3_1226+6del |