Linked Data
ClinVar Variation Id:
4340
ClinVar RCV Id:
RCV003221403
dbSNP Id:
rs113994014
MyVariant Identifiers:
chr14:g.75472578_75472583delinsTG (hg19)
chr14:g.75005875_75005880delinsTG (hg38)
PubMed:
PMID:12707859
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75005875_75005880delinsTG , CM000676.2:g.75005875_75005880delinsTG | GRCh38 |
| NC_000014.8:g.75472578_75472583delinsTG , CM000676.1:g.75472578_75472583delinsTG | GRCh37 |
| NC_000014.7:g.74542331_74542336delinsTG | NCBI36 |
| NG_013333.1:g.7967_7972delinsTG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000266126.10:c.607_612delinsTG MANE Select | ENSP00000266126.5:p.Met203TrpfsTer2 | |
| ENST00000266126.9:c.607_612delinsTG | ENSP00000266126.5:p.Met203TrpfsTer2 | |
| ENST00000553401.5:c.605_610delinsTG | ENSP00000451681.1:n.605_610delinsTG | |
| ENST00000556028.5:c.598-22_598-17delinsTG | ENSP00000452311.1:n.598-22_598-17delinsTG... | |
| NM_014239.3:c.607_612delinsTG | NP_055054.1:p.Met203TrpfsTer2 | |
| NM_014239.4:c.607_612delinsTG MANE Select | NP_055054.1:p.Met203TrpfsTer2 |