Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1414483_1414484insGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGCCC , CM000667.2:g.1414483_1414484insGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGCCC | GRCh38 |
| NC_000005.9:g.1414598_1414599insGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGCCC , CM000667.1:g.1414598_1414599insGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGCCC | GRCh37 |
| NC_000005.8:g.1467598_1467599insGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGCCC | NCBI36 |
| NG_015885.1:g.35947_35948insGCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270349.12:c.1156+209_1156+210insGCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGG MANE Select | ENSP00000270349.9:n.1156+209_1156+210insGCCCCCACCCAGCGCCTTCCC... | |
| ENST00000270349.11:c.1156+209_1156+210insGCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGG | ENSP00000270349.9:n.1156+209_1156+210insGCCCCCACCCAGCGCCTTCCC... | |
| NM_001044.4:c.1156+209_1156+210insGCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGG | NP_001035.1:n.1156+209_1156+210insGCCCCCACCCAGCGCCTTCCCCGCCCT... | |
| NM_001044.5:c.1156+209_1156+210insGCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGG MANE Select | NP_001035.1:n.1156+209_1156+210insGCCCCCACCCAGCGCCTTCCCCGCCCT... |