Linked Data
ClinVar Variation Id:
265677
dbSNP Id:
rs886039724
MyVariant Identifiers:
chr20:g.10653358_10653359delinsTT (hg19)
chr20:g.10672710_10672711delinsTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10672710_10672711delinsTT , CM000682.2:g.10672710_10672711delinsTT | GRCh38 |
| NC_000020.10:g.10653358_10653359delinsTT , CM000682.1:g.10653358_10653359delinsTT | GRCh37 |
| NC_000020.9:g.10601358_10601359delinsTT | NCBI36 |
| NG_007496.1:g.6336_6337delinsAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.377_378delinsAA MANE Select | ENSP00000254958.4:p.Phe126Ter | |
| ENST00000254958.9:c.377_378delinsAA | ENSP00000254958.4:p.Phe126Ter | |
| NM_000214.2:c.377_378delinsAA | NP_000205.1:p.Phe126Ter | |
| NM_000214.3:c.377_378delinsAA MANE Select | NP_000205.1:p.Phe126Ter |