Linked Data
dbSNP Id:
rs1173150145
gnomAD v3:
9-133274229-G-GGAGCC
gnomAD v4:
9-133274229-G-GGAGCC
MyVariant Identifiers:
chr9:g.133274229_133274230insGAGCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133274230_133274234dup , CM000671.2:g.133274230_133274234dup | GRCh38 |
| NC_000009.11:g.136149646_136149650dup , CM000671.1:g.136149646_136149650dup | GRCh37 |
| NC_000009.10:g.135139467_135139471dup | NCBI36 |
| NG_006669.1:g.3401_3405dup | |
| NG_006669.2:g.5981_5985dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000453660.4:n.58+928_58+932dup | ||
| ENST00000647353.1:n.53+928_53+932dup | ||
| ENST00000651471.1:n.63+1728_63+1732dup | ||
| ENST00000679909.1:c.28+928_28+932dup | ENSP00000506089.1:n.28+928_28+932dup | |
| ENST00000453660.3:n.40+928_40+932dup | ||
| ENST00000538324.2:c.28+928_28+932dup | ENSP00000483018.1:n.28+928_28+932dup | |
| ENST00000611156.4:c.28+928_28+932dup | ENSP00000483265.1:n.28+928_28+932dup | |
| NM_020469.2:c.28+928_28+932dup | NP_065202.2:n.28+928_28+932dup | |
| NM_020469.3:c.28+928_28+932dup | NP_065202.2:n.28+928_28+932dup |