Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2444966_2444996delinsCGGGCTGGGCCGGCAGCGGCCCCCCGCGGCG , CM000673.2:g.2444966_2444996delinsCGGGCTGGGCCGGCAGCGGCCCCCCGCGGCG | GRCh38 |
| NC_000011.9:g.2466196_2466226delinsCGGGCTGGGCCGGCAGCGGCCCCCCGCGGCG , CM000673.1:g.2466196_2466226delinsCGGGCTGGGCCGGCAGCGGCCCCCCGCGGCG | GRCh37 |
| NC_000011.8:g.2422772_2422802delinsCGGGCTGGGCCGGCAGCGGCCCCCCGCGGCG | NCBI36 |
| NG_008935.1:g.4976_5006delinsCGGGCTGGGCCGGCAGCGGCCCCCCGCGGCG , LRG_287:g.4976_5006delinsCGGGCTGGGCCGGCAGCGGCCCCCCGCGGCG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.23+258_23+288delinsCGGGCTGGGCCGGCAGCGGCCCCCCGCGGCG | ENSP00000434560.2:n.23+258_23+288delinsCGGGCTGGGCCGGCAGCGGCCC... | |
| ENST00000496887.6:c.23+258_23+288delinsCGGGCTGGGCCGGCAGCGGCCCCCCGCGGCG | ENSP00000434560.1:n.23+258_23+288delinsCGGGCTGGGCCGGCAGCGGCCC... |