Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1414424_1414498delinsAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCTGGAGGGTCAGGGCG , CM000667.2:g.1414424_1414498delinsAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCTGGAGGGTCAGGGCG | GRCh38 |
| NC_000005.9:g.1414539_1414613delinsAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCTGGAGGGTCAGGGCG , CM000667.1:g.1414539_1414613delinsAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCTGGAGGGTCAGGGCG | GRCh37 |
| NC_000005.8:g.1467539_1467613delinsAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCTGGAGGGTCAGGGCG | NCBI36 |
| NG_015885.1:g.35931_36005delinsCGCCCTGACCCTCCAGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270349.12:c.1156+193_1156+267delinsCGCCCTGACCCTCCAGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCT MANE Select | ENSP00000270349.9:n.1156+193_1156+267delinsCGCCCTGACCCTCCAGGC... | |
| ENST00000270349.11:c.1156+193_1156+267delinsCGCCCTGACCCTCCAGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCT | ENSP00000270349.9:n.1156+193_1156+267delinsCGCCCTGACCCTCCAGGC... | |
| NM_001044.4:c.1156+193_1156+267delinsCGCCCTGACCCTCCAGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCT | NP_001035.1:n.1156+193_1156+267delinsCGCCCTGACCCTCCAGGCCCCCCA... | |
| NM_001044.5:c.1156+193_1156+267delinsCGCCCTGACCCTCCAGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCT MANE Select | NP_001035.1:n.1156+193_1156+267delinsCGCCCTGACCCTCCAGGCCCCCCA... |