Linked Data
dbSNP Id:
rs1756208802
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1414423_1414424insGGAAGGCACTGGGTGGGGGGCCGGGAGGGTCAGGGCGG , CM000667.2:g.1414423_1414424insGGAAGGCACTGGGTGGGGGGCCGGGAGGGTCAGGGCGG | GRCh38 |
| NC_000005.9:g.1414538_1414539insGGAAGGCACTGGGTGGGGGGCCGGGAGGGTCAGGGCGG , CM000667.1:g.1414538_1414539insGGAAGGCACTGGGTGGGGGGCCGGGAGGGTCAGGGCGG | GRCh37 |
| NC_000005.8:g.1467538_1467539insGGAAGGCACTGGGTGGGGGGCCGGGAGGGTCAGGGCGG | NCBI36 |
| NG_015885.1:g.36013_36014insACCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270349.12:c.1156+275_1156+276insACCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTG MANE Select | ENSP00000270349.9:n.1156+275_1156+276insACCCTCCCGGCCCCCCACCCA... | |
| ENST00000270349.11:c.1156+275_1156+276insACCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTG | ENSP00000270349.9:n.1156+275_1156+276insACCCTCCCGGCCCCCCACCCA... | |
| NM_001044.4:c.1156+275_1156+276insACCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTG | NP_001035.1:n.1156+275_1156+276insACCCTCCCGGCCCCCCACCCAGTGCCT... | |
| NM_001044.5:c.1156+275_1156+276insACCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTG MANE Select | NP_001035.1:n.1156+275_1156+276insACCCTCCCGGCCCCCCACCCAGTGCCT... |