Linked Data
dbSNP Id:
rs1859952300
gnomAD v3:
11-2146384-G-GCTCGCTCCC
gnomAD v4:
11-2146384-G-GCTCGCTCCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2146387_2146388insGCTCCCCTC , CM000673.2:g.2146387_2146388insGCTCCCCTC | GRCh38 |
| NC_000011.9:g.2167617_2167618insGCTCCCCTC , CM000673.1:g.2167617_2167618insGCTCCCCTC | GRCh37 |
| NC_000011.8:g.2124193_2124194insGCTCCCCTC | NCBI36 |
| NG_008849.1:g.8219_8220insGGGAGCGAG | |
| NG_050578.1:g.19825_19826insGGGAGCGAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000481781.3:c.-7+1181_-7+1182insGGGAGCGAG (IGF2) | ENSP00000511998.1:n.-7+1181_-7+1182insGGGAGCGAG | |
| ENST00000643349.2:c.*46+1181_*46+1182insGGGAGCGAG | ENSP00000495715.1:n.*46+1181_*46+1182insGGGAGCGAG | |
| ENST00000695541.1:c.-7+1181_-7+1182insGGGAGCGAG (IGF2) | ENSP00000511997.1:n.-7+1181_-7+1182insGGGAGCGAG | |
| ENST00000643349.1:c.*46+1181_*46+1182insGGGAGCGAG | ENSP00000495715.1:n.*46+1181_*46+1182insGGGAGCGAG | |
| ENST00000356578.8:c.*46+1181_*46+1182insGGGAGCGAG (INS-IGF2) | ENSP00000348986.4:n.*46+1181_*46+1182insGGGAGCGAG | |
| NM_001007139.5:c.-7+1181_-7+1182insGGGAGCGAG (IGF2) | NP_001007140.2:n.-7+1181_-7+1182insGGGAGCGAG | |
| NR_003512.3:n.708+1181_708+1182insGGGAGCGAG (INS-IGF2) | ||
| NR_028043.2:n.579_580insGCTCCCCTC (IGF2-AS) | ||
| NR_133657.1:n.468_469insGCTCCCCTC (IGF2-AS) | ||
| NR_003512.4:n.708+1181_708+1182insGGGAGCGAG (INS-IGF2) | ||
| NM_001007139.6:c.-7+1181_-7+1182insGGGAGCGAG (IGF2) | NP_001007140.2:n.-7+1181_-7+1182insGGGAGCGAG |