Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1414459_1414460insAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGTCAGGGC , CM000667.2:g.1414459_1414460insAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGTCAGGGC | GRCh38 |
| NC_000005.9:g.1414574_1414575insAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGTCAGGGC , CM000667.1:g.1414574_1414575insAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGTCAGGGC | GRCh37 |
| NC_000005.8:g.1467574_1467575insAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGTCAGGGC | NCBI36 |
| NG_015885.1:g.35975_35976insACCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270349.12:c.1156+237_1156+238insACCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCTG MANE Select | ENSP00000270349.9:n.1156+237_1156+238insACCCTCCAGGCCCCCCACCCA... | |
| ENST00000270349.11:c.1156+237_1156+238insACCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCTG | ENSP00000270349.9:n.1156+237_1156+238insACCCTCCAGGCCCCCCACCCA... | |
| NM_001044.4:c.1156+237_1156+238insACCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCTG | NP_001035.1:n.1156+237_1156+238insACCCTCCAGGCCCCCCACCCAGTGCCT... | |
| NM_001044.5:c.1156+237_1156+238insACCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCTG MANE Select | NP_001035.1:n.1156+237_1156+238insACCCTCCAGGCCCCCCACCCAGTGCCT... |