Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1414420_1414421insTGGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGG , CM000667.2:g.1414420_1414421insTGGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGG | GRCh38 |
| NC_000005.9:g.1414535_1414536insTGGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGG , CM000667.1:g.1414535_1414536insTGGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGG | GRCh37 |
| NC_000005.8:g.1467535_1467536insTGGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGG | NCBI36 |
| NG_015885.1:g.36020_36021insCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCCACCCTGCCCCTCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270349.12:c.1156+282_1156+283insCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCCACCCTGCCCCTCC MANE Select | ENSP00000270349.9:n.1156+282_1156+283insCGGCCCCCCACCCAGTGCCTT... | |
| ENST00000270349.11:c.1156+282_1156+283insCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCCACCCTGCCCCTCC | ENSP00000270349.9:n.1156+282_1156+283insCGGCCCCCCACCCAGTGCCTT... | |
| NM_001044.4:c.1156+282_1156+283insCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCCACCCTGCCCCTCC | NP_001035.1:n.1156+282_1156+283insCGGCCCCCCACCCAGTGCCTTCCCCGC... | |
| NM_001044.5:c.1156+282_1156+283insCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCCACCCTGCCCCTCC MANE Select | NP_001035.1:n.1156+282_1156+283insCGGCCCCCCACCCAGTGCCTTCCCCGC... |