Linked Data
dbSNP Id:
rs1756205973
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1414404_1414405insCCTGGAGGGGCAGGGCAGGGAAGGCGCTGGGTGGGGGGCCTGGAGGGTCAGGGCGGGGAAGGCACTGGGTGGGGG , CM000667.2:g.1414404_1414405insCCTGGAGGGGCAGGGCAGGGAAGGCGCTGGGTGGGGGGCCTGGAGGGTCAGGGCGGGGAAGGCACTGGGTGGGGG | GRCh38 |
| NC_000005.9:g.1414519_1414520insCCTGGAGGGGCAGGGCAGGGAAGGCGCTGGGTGGGGGGCCTGGAGGGTCAGGGCGGGGAAGGCACTGGGTGGGGG , CM000667.1:g.1414519_1414520insCCTGGAGGGGCAGGGCAGGGAAGGCGCTGGGTGGGGGGCCTGGAGGGTCAGGGCGGGGAAGGCACTGGGTGGGGG | GRCh37 |
| NC_000005.8:g.1467519_1467520insCCTGGAGGGGCAGGGCAGGGAAGGCGCTGGGTGGGGGGCCTGGAGGGTCAGGGCGGGGAAGGCACTGGGTGGGGG | NCBI36 |
| NG_015885.1:g.36029_36030insACCCAGTGCCTTCCCCGCCCTGACCCTCCAGGCCCCCCACCCAGCGCCTTCCCTGCCCTGCCCCTCCAGGCCCCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270349.12:c.1156+291_1156+292insACCCAGTGCCTTCCCCGCCCTGACCCTCCAGGCCCCCCACCCAGCGCCTTCCCTGCCCTGCCCCTCCAGGCCCCC MANE Select | ENSP00000270349.9:n.1156+291_1156+292insACCCAGTGCCTTCCCCGCCCT... | |
| ENST00000270349.11:c.1156+291_1156+292insACCCAGTGCCTTCCCCGCCCTGACCCTCCAGGCCCCCCACCCAGCGCCTTCCCTGCCCTGCCCCTCCAGGCCCCC | ENSP00000270349.9:n.1156+291_1156+292insACCCAGTGCCTTCCCCGCCCT... | |
| NM_001044.4:c.1156+291_1156+292insACCCAGTGCCTTCCCCGCCCTGACCCTCCAGGCCCCCCACCCAGCGCCTTCCCTGCCCTGCCCCTCCAGGCCCCC | NP_001035.1:n.1156+291_1156+292insACCCAGTGCCTTCCCCGCCCTGACCCT... | |
| NM_001044.5:c.1156+291_1156+292insACCCAGTGCCTTCCCCGCCCTGACCCTCCAGGCCCCCCACCCAGCGCCTTCCCTGCCCTGCCCCTCCAGGCCCCC MANE Select | NP_001035.1:n.1156+291_1156+292insACCCAGTGCCTTCCCCGCCCTGACCCT... |