Linked Data
dbSNP Id:
rs1756210962
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1414445_1414446insTGGAGGGTCAGGGCAGAGAAGGCACTGGGTGGGGGGCCTGGAGGGTCAGGGCAGGGAAGGCACTGGGTGGGGGGCC , CM000667.2:g.1414445_1414446insTGGAGGGTCAGGGCAGAGAAGGCACTGGGTGGGGGGCCTGGAGGGTCAGGGCAGGGAAGGCACTGGGTGGGGGGCC | GRCh38 |
| NC_000005.9:g.1414560_1414561insTGGAGGGTCAGGGCAGAGAAGGCACTGGGTGGGGGGCCTGGAGGGTCAGGGCAGGGAAGGCACTGGGTGGGGGGCC , CM000667.1:g.1414560_1414561insTGGAGGGTCAGGGCAGAGAAGGCACTGGGTGGGGGGCCTGGAGGGTCAGGGCAGGGAAGGCACTGGGTGGGGGGCC | GRCh37 |
| NC_000005.8:g.1467560_1467561insTGGAGGGTCAGGGCAGAGAAGGCACTGGGTGGGGGGCCTGGAGGGTCAGGGCAGGGAAGGCACTGGGTGGGGGGCC | NCBI36 |
| NG_015885.1:g.36004_36005insCCTGCCCTGACCCTCCAGGCCCCCCACCCAGTGCCTTCTCTGCCCTGACCCTCCAGGCCCCCCACCCAGTGCCTTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270349.12:c.1156+266_1156+267insCCTGCCCTGACCCTCCAGGCCCCCCACCCAGTGCCTTCTCTGCCCTGACCCTCCAGGCCCCCCACCCAGTGCCTTC MANE Select | ENSP00000270349.9:n.1156+266_1156+267insCCTGCCCTGACCCTCCAGGCC... | |
| ENST00000270349.11:c.1156+266_1156+267insCCTGCCCTGACCCTCCAGGCCCCCCACCCAGTGCCTTCTCTGCCCTGACCCTCCAGGCCCCCCACCCAGTGCCTTC | ENSP00000270349.9:n.1156+266_1156+267insCCTGCCCTGACCCTCCAGGCC... | |
| NM_001044.4:c.1156+266_1156+267insCCTGCCCTGACCCTCCAGGCCCCCCACCCAGTGCCTTCTCTGCCCTGACCCTCCAGGCCCCCCACCCAGTGCCTTC | NP_001035.1:n.1156+266_1156+267insCCTGCCCTGACCCTCCAGGCCCCCCAC... | |
| NM_001044.5:c.1156+266_1156+267insCCTGCCCTGACCCTCCAGGCCCCCCACCCAGTGCCTTCTCTGCCCTGACCCTCCAGGCCCCCCACCCAGTGCCTTC MANE Select | NP_001035.1:n.1156+266_1156+267insCCTGCCCTGACCCTCCAGGCCCCCCAC... |