Linked Data
ClinVar Variation Id:
97279
ClinVar RCV Id:
RCV000083522
dbSNP Id:
rs72558422
PubMed:
PMID:8019569
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38403722dup , CM000685.2:g.38403722dup | GRCh38 |
| NC_000023.10:g.38262975dup , CM000685.1:g.38262975dup | GRCh37 |
| NC_000023.9:g.38147919dup | NCBI36 |
| NG_008471.1:g.56240dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000039007.5:c.645dup MANE Select | ENSP00000039007.4:p.Gln216SerfsTer9 | |
| ENST00000643344.1:c.*395dup | ENSP00000496606.1:n.*395dup | |
| ENST00000039007.4:c.645dup | ENSP00000039007.4:p.Gln216SerfsTer9 | |
| ENST00000465127.1:c.172-262399dup | ENSP00000417050.1:n.172-262399dup | |
| NM_000531.5:c.645dup | NP_000522.3:p.Gln216SerfsTer9 | |
| XM_017029556.1:c.645dup | XP_016885045.1:p.Gln216SerfsTer9 | |
| NM_000531.6:c.645dup MANE Select | NP_000522.3:p.Gln216SerfsTer9 |