Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48420650_48420730delinsAGCTA , CM000677.2:g.48420650_48420730delinsAGCTA | GRCh38 |
| NC_000015.9:g.48712847_48712927delinsAGCTA , CM000677.1:g.48712847_48712927delinsAGCTA | GRCh37 |
| NC_000015.8:g.46500139_46500219delinsAGCTA | NCBI36 |
| NG_008805.2:g.230059_230139delinsTAGCT , LRG_778:g.230059_230139delinsTAGCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*584_*627+37delinsTAGCT | ||
| ENST00000674301.2:c.*1289_*1332+37delinsTAGCT | ||
| ENST00000682170.1:n.1957_2000+37delinsTAGCT | ||
| ENST00000682767.1:n.1073_1116+37delinsTAGCT | ||
| ENST00000316623.10:c.7776_7819+37delinsTAGCT | ||
| ENST00000674301.1:c.2942_2985+37delinsTAGCT | ||
| ENST00000316623.9:c.7776_7819+37delinsTAGCT | ||
| ENST00000559133.5:c.3145_3188+37delinsTAGCT | ||
| NM_000138.4:c.7776_7819+37delinsTAGCT , LRG_778t1:c.7776_7819+37delinsTAGCT | ||
| NM_000138.5:c.7776_7819+37delinsTAGCT |