Linked Data
dbSNP Id:
rs386675596
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.68646935_68646936delinsCAA , CM000666.2:g.68646935_68646936delinsCAA | GRCh38 |
| NC_000004.11:g.69512653_69512654delinsCAA , CM000666.1:g.69512653_69512654delinsCAA | GRCh37 |
| NC_000004.10:g.69195248_69195249delinsCAA | NCBI36 |
| NG_052676.1:g.28841_28842delinsTTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338206.6:c.*168_*169delinsTTG MANE Select | ENSP00000341045.5:n.*168_*169delinsTTG | |
| ENST00000338206.5:c.*168_*169delinsTTG | ENSP00000341045.5:n.*168_*169delinsTTG | |
| ENST00000616841.4:c.1732+29_1732+30delinsTTG | ENSP00000482004.1:n.1732+29_1732+30delinsTTG | |
| NM_001076.3:c.*168_*169delinsTTG | NP_001067.2:n.*168_*169delinsTTG | |
| NM_001076.4:c.*168_*169delinsTTG MANE Select | NP_001067.2:n.*168_*169delinsTTG |