Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112093693_112095870del , CM000673.2:g.112093693_112095870del | GRCh38 |
| NC_000011.9:g.111964417_111966594del , CM000673.1:g.111964417_111966594del | GRCh37 |
| NC_000011.8:g.111469627_111471804del | NCBI36 |
| NG_012337.2:g.11847_14024del | |
| NG_012337.3:g.11847_14024del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000534010.2:c.314+4682_314+6859del | ENSP00000433202.2:n.314+4682_314+6859del | |
| ENST00000528021.6:c.314+4682_314+6859del | ENSP00000432465.1:n.314+4682_314+6859del | |
| ENST00000525987.5:n.319+4682_319+6859del | ||
| ENST00000528021.5:c.314+4682_314+6859del | ENSP00000432465.1:n.314+4682_314+6859del | |
| ENST00000531744.5:c.314+4682_314+6859del | ENSP00000456957.1:n.314+4682_314+6859del | |
| ENST00000532699.1:c.314+4682_314+6859del | ENSP00000456434.1:n.314+4682_314+6859del | |
| ENST00000534010.1:c.145+4682_145+6859del |