Linked Data
dbSNP Id:
rs764006742
ExAC:
11:2167493 C / CGCTCCG
gnomAD v2:
11-2167493-C-CGCTCCG
gnomAD v3:
11-2146263-C-CGCTCCG
gnomAD v4:
11-2146263-C-CGCTCCG
MyVariant Identifiers:
chr11:g.2167493_2167494insGCTCCG (hg19)
chr11:g.2146263_2146264insGCTCCG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2146264_2146269dup , CM000673.2:g.2146264_2146269dup | GRCh38 |
| NC_000011.9:g.2167494_2167499dup , CM000673.1:g.2167494_2167499dup | GRCh37 |
| NC_000011.8:g.2124070_2124075dup | NCBI36 |
| NG_008849.1:g.8335_8340dup | |
| NG_050578.1:g.19941_19946dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000481781.3:c.-7+1297_-7+1302dup (IGF2) | ENSP00000511998.1:n.-7+1297_-7+1302dup | |
| ENST00000643349.2:c.*46+1297_*46+1302dup | ENSP00000495715.1:n.*46+1297_*46+1302dup | |
| ENST00000695541.1:c.-7+1297_-7+1302dup (IGF2) | ENSP00000511997.1:n.-7+1297_-7+1302dup | |
| ENST00000643349.1:c.*46+1297_*46+1302dup | ENSP00000495715.1:n.*46+1297_*46+1302dup | |
| ENST00000356578.8:c.*46+1297_*46+1302dup (INS-IGF2) | ENSP00000348986.4:n.*46+1297_*46+1302dup | |
| NM_001007139.5:c.-7+1297_-7+1302dup (IGF2) | NP_001007140.2:n.-7+1297_-7+1302dup | |
| NR_003512.3:n.708+1297_708+1302dup (INS-IGF2) | ||
| NR_028043.2:n.456_461dup (IGF2-AS) | ||
| NR_133657.1:n.437-92_437-87dup (IGF2-AS) | ||
| NR_003512.4:n.708+1297_708+1302dup (INS-IGF2) | ||
| NM_001007139.6:c.-7+1297_-7+1302dup (IGF2) | NP_001007140.2:n.-7+1297_-7+1302dup |