Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1414518_1414519insGCCGGGAGGGGCAGGGAAGGGACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGG , CM000667.2:g.1414518_1414519insGCCGGGAGGGGCAGGGAAGGGACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGG | GRCh38 |
| NC_000005.9:g.1414633_1414634insGCCGGGAGGGGCAGGGAAGGGACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGG , CM000667.1:g.1414633_1414634insGCCGGGAGGGGCAGGGAAGGGACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGG | GRCh37 |
| NC_000005.8:g.1467633_1467634insGCCGGGAGGGGCAGGGAAGGGACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGG | NCBI36 |
| NG_015885.1:g.35921_35922insTGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAGTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270349.12:c.1156+183_1156+184insTGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAGTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAG MANE Select | ENSP00000270349.9:n.1156+183_1156+184insTGCCTTCCCTTCCCTGCCCCT... | |
| ENST00000270349.11:c.1156+183_1156+184insTGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAGTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAG | ENSP00000270349.9:n.1156+183_1156+184insTGCCTTCCCTTCCCTGCCCCT... | |
| NM_001044.4:c.1156+183_1156+184insTGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAGTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAG | NP_001035.1:n.1156+183_1156+184insTGCCTTCCCTTCCCTGCCCCTCCCGGC... | |
| NM_001044.5:c.1156+183_1156+184insTGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAGTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAG MANE Select | NP_001035.1:n.1156+183_1156+184insTGCCTTCCCTTCCCTGCCCCTCCCGGC... |