Linked Data
ClinVar Variation Id:
365764
ClinVar RCV Id:
RCV000317278
dbSNP Id:
rs10628678
gnomAD v2:
9-137735017-T-TAGGG
gnomAD v3:
9-134843171-T-TAGGG
gnomAD v4:
9-134843171-T-TAGGG
MyVariant Identifiers:
chr9:g.137735019_137735022dupGGGA (hg19)
chr9:g.137735022_137735023insGGGA (hg19)
chr9:g.137735018_137735019insGGGA (hg19)
chr9:g.137735017_137735018insAGGG (hg19)
chr9:g.134843173_134843176dupGGGA (hg38)
chr9:g.134843176_134843177insGGGA (hg38)
chr9:g.134843172_134843173insGGGA (hg38)
chr9:g.134843171_134843172insAGGG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134843173_134843176dup , CM000671.2:g.134843173_134843176dup | GRCh38 |
| NC_000009.11:g.137735019_137735022dup , CM000671.1:g.137735019_137735022dup | GRCh37 |
| NC_000009.10:g.136874840_136874843dup | NCBI36 |
| NG_008030.1:g.206368_206371dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371820.4:c.*870_*873dup | ENSP00000360885.4:n.*870_*873dup | |
| ENST00000371817.8:c.*870_*873dup MANE Select | ENSP00000360882.3:n.*870_*873dup | |
| ENST00000371817.7:c.*870_*873dup | ENSP00000360882.3:n.*870_*873dup | |
| ENST00000618395.4:c.*870_*873dup | ENSP00000481360.1:n.*870_*873dup | |
| NM_000093.4:c.*870_*873dup | NP_000084.3:n.*870_*873dup | |
| NM_001278074.1:c.*870_*873dup | NP_001265003.1:n.*870_*873dup | |
| NR_103451.2:n.71-22966_71-22963dup | ||
| NM_000093.5:c.*870_*873dup MANE Select | NP_000084.3:n.*870_*873dup |