Linked Data
dbSNP Id:
rs1756204563
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1414414_1414415insTCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGGCCTGGAGGG , CM000667.2:g.1414414_1414415insTCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGGCCTGGAGGG | GRCh38 |
| NC_000005.9:g.1414529_1414530insTCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGGCCTGGAGGG , CM000667.1:g.1414529_1414530insTCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGGCCTGGAGGG | GRCh37 |
| NC_000005.8:g.1467529_1467530insTCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGGCCTGGAGGG | NCBI36 |
| NG_015885.1:g.36042_36043insCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCCGCCCTGACCCTCCAGGCCCCCCCACCCAGTGCCTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270349.12:c.1156+304_1156+305insCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCCGCCCTGACCCTCCAGGCCCCCCCACCCAGTGCCTT MANE Select | ENSP00000270349.9:n.1156+304_1156+305insCCCTGCCCTGCCCCTCCCGGC... | |
| ENST00000270349.11:c.1156+304_1156+305insCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCCGCCCTGACCCTCCAGGCCCCCCCACCCAGTGCCTT | ENSP00000270349.9:n.1156+304_1156+305insCCCTGCCCTGCCCCTCCCGGC... | |
| NM_001044.4:c.1156+304_1156+305insCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCCGCCCTGACCCTCCAGGCCCCCCCACCCAGTGCCTT | NP_001035.1:n.1156+304_1156+305insCCCTGCCCTGCCCCTCCCGGCCCCCCA... | |
| NM_001044.5:c.1156+304_1156+305insCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCCGCCCTGACCCTCCAGGCCCCCCCACCCAGTGCCTT MANE Select | NP_001035.1:n.1156+304_1156+305insCCCTGCCCTGCCCCTCCCGGCCCCCCA... |