Linked Data
ClinVar Variation Id:
15145
ClinVar RCV Id:
RCV000016308
dbSNP Id:
rs35660883
PubMed:
PMID:1059149
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5225606_5225607insGA , CM000673.2:g.5225606_5225607insGA | GRCh38 |
| NC_000011.9:g.5246836_5246837insGA , CM000673.1:g.5246836_5246837insGA | GRCh37 |
| NC_000011.8:g.5203412_5203413insGA | NCBI36 |
| NG_000007.3:g.72010_72011insCT | |
| NG_059281.1:g.6466_6467insCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.436_437insCT | ENSP00000494175.1:p.Tyr146SerfsTer14 | |
| ENST00000335295.4:c.436_437insCT MANE Select | ENSP00000333994.3:p.Tyr146SerfsTer14 | |
| ENST00000633227.1:c.*252_*253insCT | ENSP00000488004.1:n.*252_*253insCT | |
| NM_000518.4:c.436_437insCT | NP_000509.1:p.Tyr146SerfsTer14 | |
| NM_000518.5:c.436_437insCT MANE Select | NP_000509.1:p.Tyr146SerfsTer14 |