Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5253175_5253176del , CM000673.2:g.5253175_5253176del | GRCh38 |
| NC_000011.9:g.5274405_5274406del , CM000673.1:g.5274405_5274406del | GRCh37 |
| NC_000011.8:g.5230981_5230982del | NCBI36 |
| NG_000007.3:g.44440_44441del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642908.1:c.315+1116_315+1117del | ENSP00000495346.1:n.315+1116_315+1117del | |
| ENST00000647543.1:c.378+167_378+168del | ENSP00000496470.1:n.378+167_378+168del | |
| ENST00000620888.4:c.315+1116_315+1117del | ENSP00000479637.1:n.315+1116_315+1117del |