Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2444873_2444892delinsCGGCGGGGGCGGGGCGTGCA , CM000673.2:g.2444873_2444892delinsCGGCGGGGGCGGGGCGTGCA | GRCh38 |
| NC_000011.9:g.2466103_2466122delinsCGGCGGGGGCGGGGCGTGCA , CM000673.1:g.2466103_2466122delinsCGGCGGGGGCGGGGCGTGCA | GRCh37 |
| NC_000011.8:g.2422679_2422698delinsCGGCGGGGGCGGGGCGTGCA | NCBI36 |
| NG_008935.1:g.4883_4902delinsCGGCGGGGGCGGGGCGTGCA , LRG_287:g.4883_4902delinsCGGCGGGGGCGGGGCGTGCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.23+165_23+184delinsCGGCGGGGGCGGGGCGTGCA | ENSP00000434560.2:n.23+165_23+184delinsCGGCGGGGGCGGGGCGTGCA | |
| ENST00000496887.6:c.23+165_23+184delinsCGGCGGGGGCGGGGCGTGCA | ENSP00000434560.1:n.23+165_23+184delinsCGGCGGGGGCGGGGCGTGCA |