Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1414506_1414507insACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGC , CM000667.2:g.1414506_1414507insACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGC | GRCh38 |
| NC_000005.9:g.1414621_1414622insACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGC , CM000667.1:g.1414621_1414622insACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGC | GRCh37 |
| NC_000005.8:g.1467621_1467622insACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGC | NCBI36 |
| NG_015885.1:g.35930_35931insTTCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270349.12:c.1156+192_1156+193insTTCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCC MANE Select | ENSP00000270349.9:n.1156+192_1156+193insTTCCCTGCCCCTCCCGGCCCC... | |
| ENST00000270349.11:c.1156+192_1156+193insTTCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCC | ENSP00000270349.9:n.1156+192_1156+193insTTCCCTGCCCCTCCCGGCCCC... | |
| NM_001044.4:c.1156+192_1156+193insTTCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCC | NP_001035.1:n.1156+192_1156+193insTTCCCTGCCCCTCCCGGCCCCCCACCC... | |
| NM_001044.5:c.1156+192_1156+193insTTCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCC MANE Select | NP_001035.1:n.1156+192_1156+193insTTCCCTGCCCCTCCCGGCCCCCCACCC... |