Linked Data
dbSNP Id:
rs147072881
gnomAD v3:
3-185969009-T-TGGG
gnomAD v4:
3-185969009-T-TGGG
MyVariant Identifiers:
chr3:g.185686798_185686799insGGG (hg19)
chr3:g.185969009_185969010insGGG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.185969015_185969017dup , CM000665.2:g.185969015_185969017dup | GRCh38 |
| NC_000003.11:g.185686804_185686806dup , CM000665.1:g.185686804_185686806dup | GRCh37 |
| NC_000003.10:g.187169498_187169500dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306399.3:n.270+307_270+309dup | ||
| ENST00000416764.5:n.349+298_349+300dup | ||
| ENST00000422108.5:n.288+366_288+368dup | ||
| ENST00000423298.5:n.137-2600_137-2598dup | ||
| ENST00000436375.5:n.342+307_342+309dup | ||
| ENST00000445507.1:n.279+366_279+368dup | ||
| NR_033752.2:n.349+298_349+300dup | ||
| NR_151491.1:n.137-2600_137-2598dup |