Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2444746_2444758delinsCAGGCGGGGGCGG , CM000673.2:g.2444746_2444758delinsCAGGCGGGGGCGG | GRCh38 |
| NC_000011.9:g.2465976_2465988delinsCAGGCGGGGGCGG , CM000673.1:g.2465976_2465988delinsCAGGCGGGGGCGG | GRCh37 |
| NC_000011.8:g.2422552_2422564delinsCAGGCGGGGGCGG | NCBI36 |
| NG_008935.1:g.4756_4768delinsCAGGCGGGGGCGG , LRG_287:g.4756_4768delinsCAGGCGGGGGCGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.23+38_23+50delinsCAGGCGGGGGCGG | ENSP00000434560.2:n.23+38_23+50delinsCAGGCGGGGGCGG | |
| ENST00000496887.6:c.23+38_23+50delinsCAGGCGGGGGCGG | ENSP00000434560.1:n.23+38_23+50delinsCAGGCGGGGGCGG |