Linked Data
ClinVar Variation Id:
222703
ClinVar RCV Id:
RCV000208518
dbSNP Id:
rs869025462
MyVariant Identifiers:
chr11:g.47372932_47372937delinsCTCATCA (hg19)
chr11:g.47351381_47351386delinsCTCATCA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47351381_47351386delinsCTCATCA , CM000673.2:g.47351381_47351386delinsCTCATCA | GRCh38 |
| NC_000011.9:g.47372932_47372937delinsCTCATCA , CM000673.1:g.47372932_47372937delinsCTCATCA | GRCh37 |
| NC_000011.8:g.47329508_47329513delinsCTCATCA | NCBI36 |
| NG_007667.1:g.6317_6322delinsTGATGAG , LRG_386:g.6317_6322delinsTGATGAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545968.6:c.145_150delinsTGATGAG MANE Select | ENSP00000442795.1:p.Ile49Ter | |
| ENST00000256993.8:c.145_150delinsTGATGAG | ENSP00000256993.5:p.Ile49Ter | |
| ENST00000399249.6:c.145_150delinsTGATGAG | ENSP00000382193.2:p.Ile49Ter | |
| ENST00000544791.1:c.145_150delinsTGATGAG | ENSP00000444259.1:p.Ile49Ter | |
| ENST00000545968.5:c.145_150delinsTGATGAG | ENSP00000442795.1:p.Ile49Ter | |
| NM_000256.3:c.145_150delinsTGATGAG , LRG_386t1:c.145_150delinsTGATGAG MANE Select | NP_000247.2:p.Ile49Ter | |
| XM_011520117.1:c.145_150delinsTGATGAG | XP_011518419.1:p.Ile49Ter | |
| XM_011520118.1:c.145_150delinsTGATGAG | XP_011518420.1:p.Ile49Ter |