Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48437767_48437768delinsGT , CM000677.2:g.48437767_48437768delinsGT | GRCh38 |
| NC_000015.9:g.48729964_48729965delinsGT , CM000677.1:g.48729964_48729965delinsGT | GRCh37 |
| NC_000015.8:g.46517256_46517257delinsGT | NCBI36 |
| NG_008805.2:g.213021_213022delinsAC , LRG_778:g.213021_213022delinsAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.6313_6313+1delinsAC | ||
| ENST00000674301.2:c.6313_6313+1delinsAC | ||
| ENST00000316623.10:c.6313_6313+1delinsAC | ||
| ENST00000674301.1:c.1312_1312+1delinsAC | ||
| ENST00000316623.9:c.6313_6313+1delinsAC | ||
| ENST00000537463.6:c.*2076_*2076+1delinsAC | ||
| ENST00000559133.5:c.1620_1620+1delinsAC | ||
| ENST00000560820.1:n.433_434delinsAC | ||
| NM_000138.4:c.6313_6313+1delinsAC , LRG_778t1:c.6313_6313+1delinsAC | ||
| NM_000138.5:c.6313_6313+1delinsAC |