Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2444787_2444815delinsAGGCGGAGGCAGGGCCAGGCCGGTCCGTG , CM000673.2:g.2444787_2444815delinsAGGCGGAGGCAGGGCCAGGCCGGTCCGTG | GRCh38 |
| NC_000011.9:g.2466017_2466045delinsAGGCGGAGGCAGGGCCAGGCCGGTCCGTG , CM000673.1:g.2466017_2466045delinsAGGCGGAGGCAGGGCCAGGCCGGTCCGTG | GRCh37 |
| NC_000011.8:g.2422593_2422621delinsAGGCGGAGGCAGGGCCAGGCCGGTCCGTG | NCBI36 |
| NG_008935.1:g.4797_4825delinsAGGCGGAGGCAGGGCCAGGCCGGTCCGTG , LRG_287:g.4797_4825delinsAGGCGGAGGCAGGGCCAGGCCGGTCCGTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.23+79_23+107delinsAGGCGGAGGCAGGGCCAGGCCGGTCCGTG | ENSP00000434560.2:n.23+79_23+107delinsAGGCGGAGGCAGGGCCAGGCCGG... | |
| ENST00000496887.6:c.23+79_23+107delinsAGGCGGAGGCAGGGCCAGGCCGGTCCGTG | ENSP00000434560.1:n.23+79_23+107delinsAGGCGGAGGCAGGGCCAGGCCGG... |