Linked Data
dbSNP Id:
rs1756210249
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1414424_1414425insAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGG , CM000667.2:g.1414424_1414425insAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGG | GRCh38 |
| NC_000005.9:g.1414539_1414540insAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGG , CM000667.1:g.1414539_1414540insAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGG | GRCh37 |
| NC_000005.8:g.1467539_1467540insAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGG | NCBI36 |
| NG_015885.1:g.36004_36005insCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270349.12:c.1156+266_1156+267insCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCT MANE Select | ENSP00000270349.9:n.1156+266_1156+267insCCCGCCCTGCCCCTCCCGGCC... | |
| ENST00000270349.11:c.1156+266_1156+267insCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCT | ENSP00000270349.9:n.1156+266_1156+267insCCCGCCCTGCCCCTCCCGGCC... | |
| NM_001044.4:c.1156+266_1156+267insCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCT | NP_001035.1:n.1156+266_1156+267insCCCGCCCTGCCCCTCCCGGCCCCCCAC... | |
| NM_001044.5:c.1156+266_1156+267insCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCT MANE Select | NP_001035.1:n.1156+266_1156+267insCCCGCCCTGCCCCTCCCGGCCCCCCAC... |