ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.31580636_31580637delinsCA , CM000664.2:g.31580636_31580637delinsCA | GRCh38 |
| NC_000002.11:g.31805706_31805707delinsCA , CM000664.1:g.31805706_31805707delinsCA | GRCh37 |
| NC_000002.10:g.31659210_31659211delinsCA | NCBI36 |
| NG_008365.1:g.5335_5336delinsTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622030.2:c.264_265delinsTG MANE Select | ENSP00000477587.1:p.Leu89Val | |
| ENST00000622030.1:c.264_265delinsTG | ENSP00000477587.1:p.Leu89Val | |
| NM_000348.3:c.264_265delinsTG | NP_000339.2:p.Leu89Val | |
| XM_011533068.1:c.264_265delinsTG | XP_011531370.1:p.Leu89Val | |
| XM_011533070.1:c.27-46871_27-46870delinsTG | XP_011531372.1:n.27-46871_27-46870delinsTG | |
| XM_011533071.1:c.27-46871_27-46870delinsTG | XP_011531373.1:n.27-46871_27-46870delinsTG | |
| XM_011533072.1:c.27-46871_27-46870delinsTG | XP_011531374.1:n.27-46871_27-46870delinsTG | |
| XM_011533072.2:c.27-46871_27-46870delinsTG | XP_011531374.1:n.27-46871_27-46870delinsTG | |
| NM_000348.4:c.264_265delinsTG MANE Select | NP_000339.2:p.Leu89Val |