Linked Data
ClinVar Variation Id:
126522
ClinVar RCV Id:
RCV000114411
dbSNP Id:
rs587777288
PubMed:
PMID:24290375
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.94769810_94769826del , CM000676.2:g.94769810_94769826del | GRCh38 |
| NC_000014.8:g.95236147_95236163del , CM000676.1:g.95236147_95236163del | GRCh37 |
| NC_000014.7:g.94305900_94305916del | NCBI36 |
| NG_034111.1:g.5343_5359del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000238558.5:c.196_212del MANE Select | ENSP00000238558.3:p.Gly66ArgfsTer? | |
| ENST00000238558.4:c.196_212del | ENSP00000238558.3:p.Gly66ArgfsTer? | |
| NM_173849.2:c.196_212del | NP_776248.1:p.Gly66ArgfsTer? | |
| NM_173849.3:c.196_212del MANE Select | NP_776248.1:p.Gly66ArgfsTer? |