Linked Data
dbSNP Id:
rs1756217115
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1414469_1414470insGGTGGGGGGCCTGGAGGGTCAGGGCGGGGAAGGCA , CM000667.2:g.1414469_1414470insGGTGGGGGGCCTGGAGGGTCAGGGCGGGGAAGGCA | GRCh38 |
| NC_000005.9:g.1414584_1414585insGGTGGGGGGCCTGGAGGGTCAGGGCGGGGAAGGCA , CM000667.1:g.1414584_1414585insGGTGGGGGGCCTGGAGGGTCAGGGCGGGGAAGGCA | GRCh37 |
| NC_000005.8:g.1467584_1467585insGGTGGGGGGCCTGGAGGGTCAGGGCGGGGAAGGCA | NCBI36 |
| NG_015885.1:g.35959_35960insTGCCTTCCCCGCCCTGACCCTCCAGGCCCCCCACC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270349.12:c.1156+221_1156+222insTGCCTTCCCCGCCCTGACCCTCCAGGCCCCCCACC MANE Select | ENSP00000270349.9:n.1156+221_1156+222insTGCCTTCCCCGCCCTGACCCT... | |
| ENST00000270349.11:c.1156+221_1156+222insTGCCTTCCCCGCCCTGACCCTCCAGGCCCCCCACC | ENSP00000270349.9:n.1156+221_1156+222insTGCCTTCCCCGCCCTGACCCT... | |
| NM_001044.4:c.1156+221_1156+222insTGCCTTCCCCGCCCTGACCCTCCAGGCCCCCCACC | NP_001035.1:n.1156+221_1156+222insTGCCTTCCCCGCCCTGACCCTCCAGGC... | |
| NM_001044.5:c.1156+221_1156+222insTGCCTTCCCCGCCCTGACCCTCCAGGCCCCCCACC MANE Select | NP_001035.1:n.1156+221_1156+222insTGCCTTCCCCGCCCTGACCCTCCAGGC... |