Linked Data
ClinVar Variation Id:
365763
ClinVar RCV Id:
RCV000262004
dbSNP Id:
rs1554727637
MyVariant Identifiers:
chr9:g.137735016_137735017insATAGG (hg19)
chr9:g.134843170_134843171insATAGG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134843170_134843171insATAGG , CM000671.2:g.134843170_134843171insATAGG | GRCh38 |
| NC_000009.11:g.137735016_137735017insATAGG , CM000671.1:g.137735016_137735017insATAGG | GRCh37 |
| NC_000009.10:g.136874837_136874838insATAGG | NCBI36 |
| NG_008030.1:g.206365_206366insATAGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371820.4:c.*867_*868insATAGG | ENSP00000360885.4:n.*867_*868insATAGG | |
| ENST00000371817.8:c.*867_*868insATAGG MANE Select | ENSP00000360882.3:n.*867_*868insATAGG | |
| ENST00000371817.7:c.*867_*868insATAGG | ENSP00000360882.3:n.*867_*868insATAGG | |
| ENST00000618395.4:c.*867_*868insATAGG | ENSP00000481360.1:n.*867_*868insATAGG | |
| NM_000093.4:c.*867_*868insATAGG | NP_000084.3:n.*867_*868insATAGG | |
| NM_001278074.1:c.*867_*868insATAGG | NP_001265003.1:n.*867_*868insATAGG | |
| NR_103451.2:n.71-22962_71-22961insCCTAT | ||
| NM_000093.5:c.*867_*868insATAGG MANE Select | NP_000084.3:n.*867_*868insATAGG |