Linked Data
ClinVar Variation Id:
215230
ClinVar RCV Id:
RCV000200184
dbSNP Id:
rs863224225
MyVariant Identifiers:
chr9:g.133356346_133356366del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133356346_133356366del , CM000671.2:g.133356346_133356366del | GRCh38 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371974.8:c.54+34_55-26del MANE Select | ENSP00000361042.3:n.54+34_55-26del | |
| ENST00000371974.7:c.54+34_55-26del | ENSP00000361042.3:n.54+34_55-26del | |
| ENST00000463965.1:n.277+34_278-26del | ||
| ENST00000615505.4:c.-222+34_-222+54del | ENSP00000482067.1:n.-222+34_-222+54del | |
| NM_001280787.1:c.-222+34_-222+54del | NP_001267716.1:n.-222+34_-222+54del | |
| NM_003172.3:c.54+34_55-26del | NP_003163.1:n.54+34_55-26del | |
| NM_003172.4:c.54+34_55-26del MANE Select | NP_003163.1:n.54+34_55-26del |