Linked Data
ClinVar Variation Id:
215243
ClinVar RCV Id:
RCV000198114
dbSNP Id:
rs863224230
MyVariant Identifiers:
chr9:g.133353882_133353884delinsAGG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133353882_133353884delinsAGG , CM000671.2:g.133353882_133353884delinsAGG | GRCh38 |
| NC_000009.10:g.135210558_135210560delinsAGG | NCBI36 |
| NG_008477.1:g.7623_7625delinsCCT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371974.8:c.380_382delinsCCT MANE Select | ENSP00000361042.3:p.Asp127_His128delinsAl... | |
| ENST00000371974.7:c.380_382delinsCCT | ENSP00000361042.3:p.Asp127_His128delinsAl... | |
| ENST00000437995.1:n.326_328delinsCCT | ||
| ENST00000495952.5:n.370_372delinsCCT | ||
| ENST00000615505.4:c.53_55delinsCCT | ENSP00000482067.1:p.Asp18_His19delinsAlaT... | |
| NM_001280787.1:c.53_55delinsCCT | NP_001267716.1:p.Asp18_His19delinsAlaTyr | |
| NM_003172.3:c.380_382delinsCCT | NP_003163.1:p.Asp127_His128delinsAlaTyr | |
| XM_011518942.1:c.53_55delinsCCT | XP_011517244.1:p.Asp18_His19delinsAlaTyr | |
| NM_003172.4:c.380_382delinsCCT MANE Select | NP_003163.1:p.Asp127_His128delinsAlaTyr |