Linked Data
dbSNP Id:
rs1560912828
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1414420_1414421insAAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGG , CM000667.2:g.1414420_1414421insAAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGG | GRCh38 |
| NC_000005.9:g.1414535_1414536insAAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGG , CM000667.1:g.1414535_1414536insAAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGG | GRCh37 |
| NC_000005.8:g.1467535_1467536insAAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGG | NCBI36 |
| NG_015885.1:g.36010_36011insTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTTCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270349.12:c.1156+272_1156+273insTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTTCC MANE Select | ENSP00000270349.9:n.1156+272_1156+273insTGCCCCTCCCGGCCCCCCACC... | |
| ENST00000270349.11:c.1156+272_1156+273insTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTTCC | ENSP00000270349.9:n.1156+272_1156+273insTGCCCCTCCCGGCCCCCCACC... | |
| NM_001044.4:c.1156+272_1156+273insTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTTCC | NP_001035.1:n.1156+272_1156+273insTGCCCCTCCCGGCCCCCCACCCAGTGC... | |
| NM_001044.5:c.1156+272_1156+273insTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTTCC MANE Select | NP_001035.1:n.1156+272_1156+273insTGCCCCTCCCGGCCCCCCACCCAGTGC... |