Linked Data
dbSNP Id:
rs1756205189
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1414421_1414422insAGGGAAGGCGCTGGGTGGGGGGGCCTGGAGGGGCAGGGC , CM000667.2:g.1414421_1414422insAGGGAAGGCGCTGGGTGGGGGGGCCTGGAGGGGCAGGGC | GRCh38 |
| NC_000005.9:g.1414536_1414537insAGGGAAGGCGCTGGGTGGGGGGGCCTGGAGGGGCAGGGC , CM000667.1:g.1414536_1414537insAGGGAAGGCGCTGGGTGGGGGGGCCTGGAGGGGCAGGGC | GRCh37 |
| NC_000005.8:g.1467536_1467537insAGGGAAGGCGCTGGGTGGGGGGGCCTGGAGGGGCAGGGC | NCBI36 |
| NG_015885.1:g.36036_36037insCGCCTTCCCTGCCCTGCCCCTCCAGGCCCCCCCACCCAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270349.12:c.1156+298_1156+299insCGCCTTCCCTGCCCTGCCCCTCCAGGCCCCCCCACCCAG MANE Select | ENSP00000270349.9:n.1156+298_1156+299insCGCCTTCCCTGCCCTGCCCCT... | |
| ENST00000270349.11:c.1156+298_1156+299insCGCCTTCCCTGCCCTGCCCCTCCAGGCCCCCCCACCCAG | ENSP00000270349.9:n.1156+298_1156+299insCGCCTTCCCTGCCCTGCCCCT... | |
| NM_001044.4:c.1156+298_1156+299insCGCCTTCCCTGCCCTGCCCCTCCAGGCCCCCCCACCCAG | NP_001035.1:n.1156+298_1156+299insCGCCTTCCCTGCCCTGCCCCTCCAGGC... | |
| NM_001044.5:c.1156+298_1156+299insCGCCTTCCCTGCCCTGCCCCTCCAGGCCCCCCCACCCAG MANE Select | NP_001035.1:n.1156+298_1156+299insCGCCTTCCCTGCCCTGCCCCTCCAGGC... |