Linked Data
dbSNP Id:
rs1756221910
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1414497_1414498insAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGTCAGGGCAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGC , CM000667.2:g.1414497_1414498insAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGTCAGGGCAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGC | GRCh38 |
| NC_000005.9:g.1414612_1414613insAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGTCAGGGCAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGC , CM000667.1:g.1414612_1414613insAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGTCAGGGCAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGC | GRCh37 |
| NC_000005.8:g.1467612_1467613insAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGTCAGGGCAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGC | NCBI36 |
| NG_015885.1:g.35937_35938insCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCTGCCCTGACCCTCCAGGCCCCCCACCCAGTGCCTTCCCTGCCCTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270349.12:c.1156+199_1156+200insCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCTGCCCTGACCCTCCAGGCCCCCCACCCAGTGCCTTCCCTGCCCTG MANE Select | ENSP00000270349.9:n.1156+199_1156+200insCCCCTCCCGGCCCCCCACCCA... | |
| ENST00000270349.11:c.1156+199_1156+200insCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCTGCCCTGACCCTCCAGGCCCCCCACCCAGTGCCTTCCCTGCCCTG | ENSP00000270349.9:n.1156+199_1156+200insCCCCTCCCGGCCCCCCACCCA... | |
| NM_001044.4:c.1156+199_1156+200insCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCTGCCCTGACCCTCCAGGCCCCCCACCCAGTGCCTTCCCTGCCCTG | NP_001035.1:n.1156+199_1156+200insCCCCTCCCGGCCCCCCACCCAGCGCCT... | |
| NM_001044.5:c.1156+199_1156+200insCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCTGCCCTGACCCTCCAGGCCCCCCACCCAGTGCCTTCCCTGCCCTG MANE Select | NP_001035.1:n.1156+199_1156+200insCCCCTCCCGGCCCCCCACCCAGCGCCT... |