Linked Data
dbSNP Id:
rs8176713
gnomAD v3:
9-133257993-C-CGGG
gnomAD v4:
9-133257993-C-CGGG
MyVariant Identifiers:
chr9:g.133257993_133257994insGGG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133257994_133257995insGGG , CM000671.2:g.133257994_133257995insGGG | GRCh38 |
| NC_000009.11:g.136133384_136133385insGGG , CM000671.1:g.136133384_136133385insGGG | GRCh37 |
| NC_000009.10:g.135123205_135123206insGGG | NCBI36 |
| NG_006669.1:g.19670_19671insCCC | |
| NG_006669.2:g.22221_22222insCCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453660.4:n.269+103_269+104insCCC | ||
| ENST00000647353.1:n.54-6842_54-6841insCCC | ||
| ENST00000651471.1:n.329+48_329+49insCCC | ||
| ENST00000679909.1:c.28+17168_28+17169insCCC | ENSP00000506089.1:n.28+17168_28+17169insCCC | |
| ENST00000453660.3:n.251+103_251+104insCCC | ||
| ENST00000538324.2:c.239+103_239+104insCCC | ENSP00000483018.1:n.239+103_239+104insCCC | |
| ENST00000611156.4:c.239+103_239+104insCCC | ENSP00000483265.1:n.239+103_239+104insCCC | |
| NM_020469.2:c.239+103_239+104insCCC | NP_065202.2:n.239+103_239+104insCCC | |
| NM_020469.3:c.239+103_239+104insCCC | NP_065202.2:n.239+103_239+104insCCC |