ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32355250_32355251delinsCT , CM000675.2:g.32355250_32355251delinsCT | GRCh38 |
| NC_000013.10:g.32929387_32929388delinsCT , CM000675.1:g.32929387_32929388delinsCT | GRCh37 |
| NC_000013.9:g.31827387_31827388delinsCT | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.7397_7398delinsCT | ENSP00000434898.2:p.Val2466Ala | |
| ENST00000528762.2:c.7397_7398delinsCT | ENSP00000433168.2:p.Val2466Ala | |
| ENST00000530893.7:c.7028_7029delinsCT | ENSP00000499438.2:p.Val2343Ala | |
| ENST00000665585.2:c.7397_7398delinsCT | ENSP00000499570.2:p.Val2466Ala | |
| ENST00000666593.2:c.7397_7398delinsCT | ENSP00000499256.2:p.Val2466Ala | |
| ENST00000700202.2:c.7397_7398delinsCT | ENSP00000514856.2:p.Val2466Ala | |
| ENST00000380152.8:c.7397_7398delinsCT MANE Select | ENSP00000369497.3:p.Val2466Ala | |
| ENST00000544455.6:c.7397_7398delinsCT | ENSP00000439902.1:p.Val2466Ala | |
| ENST00000614259.2:c.7397_7398delinsCT | ENSP00000506251.1:p.Val2466Ala | |
| ENST00000680887.1:c.7397_7398delinsCT | ENSP00000505508.1:p.Val2466Ala | |
| ENST00000380152.7:c.7397_7398delinsCT | ENSP00000369497.3:p.Val2466Ala | |
| ENST00000544455.5:c.7397_7398delinsCT | ENSP00000439902.1:p.Val2466Ala | |
| ENST00000614259.1:n.7397_7398delinsCT | ||
| XM_011535203.1:c.7397_7398delinsCT | XP_011533505.1:p.Val2466Ala | |
| XM_011535204.1:c.7301_7302delinsCT | XP_011533506.1:p.Val2434Ala | |
| XM_011535205.1:c.7397_7398delinsCT | XP_011533507.1:p.Val2466Ala | |
| NM_000059.4:c.7397_7398delinsCT MANE Select | NP_000050.3:p.Val2466Ala |