Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44384208_44388815delinsTGTGGGATTGCACTGTGGGTGGC , CM000679.2:g.44384208_44388815delinsTGTGGGATTGCACTGTGGGTGGC | GRCh38 |
| NC_000017.10:g.42461576_42466183delinsTGTGGGATTGCACTGTGGGTGGC , CM000679.1:g.42461576_42466183delinsTGTGGGATTGCACTGTGGGTGGC | GRCh37 |
| NC_000017.9:g.39817102_39821709delinsTGTGGGATTGCACTGTGGGTGGC | NCBI36 |
| NG_008331.1:g.5691_10298delinsGCCACCCACAGTGCAATCCCACA , LRG_479:g.5691_10298delinsGCCACCCACAGTGCAATCCCACA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262407.6:c.188+471_892-70delinsGCCACCCACAGTGCAATCCCACA | ||
| ENST00000262407.5:c.188+471_892-70delinsGCCACCCACAGTGCAATCCCACA | ||
| NM_000419.3:c.188+471_892-70delinsGCCACCCACAGTGCAATCCCACA , LRG_479t1:c.188+471_892-70delinsGCCACCCACAGTGCAATCCCACA | ||
| XM_011524749.1:c.188+471_892-70delinsGCCACCCACAGTGCAATCCCACA | ||
| XM_011524750.1:c.188+471_892-70delinsGCCACCCACAGTGCAATCCCACA | ||
| NM_000419.4:c.188+471_892-70delinsGCCACCCACAGTGCAATCCCACA | ||
| NM_000419.5:c.188+471_892-70delinsGCCACCCACAGTGCAATCCCACA |