Linked Data
ClinVar Variation Id:
2051780
ClinVar RCV Id:
RCV002927514
dbSNP Id:
rs1298450179
gnomAD v3:
3-128484020-G-GGAGAGACA
gnomAD v4:
3-128484020-G-GGAGAGACA
MyVariant Identifiers:
chr3:g.128202863_128202864insGAGAGACA (hg19)
chr3:g.128484020_128484021insGAGAGACA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.128484021_128484028dup , CM000665.2:g.128484021_128484028dup | GRCh38 |
| NC_000003.11:g.128202864_128202871dup , CM000665.1:g.128202864_128202871dup | GRCh37 |
| NC_000003.10:g.129685554_129685561dup | NCBI36 |
| NG_029334.1:g.14160_14167dup , LRG_295:g.14160_14167dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000487848.6:c.872-23_872-16dup MANE Plus Clinical | ENSP00000417074.1:n.872-23_872-16dup | |
| ENST00000696466.1:c.1154-23_1154-16dup | ENSP00000512647.1:n.1154-23_1154-16dup | |
| ENST00000341105.7:c.872-23_872-16dup MANE Select | ENSP00000345681.2:n.872-23_872-16dup | |
| ENST00000341105.6:c.872-23_872-16dup | ENSP00000345681.2:n.872-23_872-16dup | |
| ENST00000430265.6:c.872-23_872-16dup | ENSP00000400259.2:n.872-23_872-16dup | |
| ENST00000487848.5:c.872-23_872-16dup | ENSP00000417074.1:n.872-23_872-16dup | |
| NM_001145661.1:c.872-23_872-16dup , LRG_295t1:c.872-23_872-16dup | NP_001139133.1:n.872-23_872-16dup | |
| NM_001145662.1:c.872-23_872-16dup | NP_001139134.1:n.872-23_872-16dup | |
| NM_032638.4:c.872-23_872-16dup , LRG_295t2:c.872-23_872-16dup | NP_116027.2:n.872-23_872-16dup | |
| NM_001145661.2:c.872-23_872-16dup MANE Plus Clinical | NP_001139133.1:n.872-23_872-16dup | |
| NM_032638.5:c.872-23_872-16dup MANE Select | NP_116027.2:n.872-23_872-16dup |