MyVariant.info:
GRCh38
chr9:g.34343404_34343406del
GRCh38
chr9:g.34343403_34343405del
GRCh37
chr9:g.34343401_34343403del
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000366 (SAS)
Exomes Max Group AF
0.00000387 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34343406_34343408del , CM000671.2:g.34343406_34343408del | GRCh38 |
| NC_000009.11:g.34343404_34343406del , CM000671.1:g.34343404_34343406del | GRCh37 |
| NC_000009.10:g.34333404_34333406del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379158.7:c.410_412del (NUDT2) MANE Select | ENSP00000368455.1:p.Glu137del | |
| ENST00000346365.8:c.410_412del (NUDT2) | ENSP00000344187.4:p.Glu137del | |
| ENST00000379155.9:c.410_412del (NUDT2) | ENSP00000368452.5:p.Glu137del | |
| ENST00000379158.6:c.410_412del (NUDT2) | ENSP00000368455.1:p.Glu137del | |
| ENST00000618590.1:c.410_412del (NUDT2) | ENSP00000482384.1:p.Glu137del | |
| NM_001161.4:c.410_412del (NUDT2) | NP_001152.1:p.Glu137del | |
| NM_001244390.1:c.410_412del (NUDT2) | NP_001231319.1:p.Glu137del | |
| NM_147172.2:c.410_412del (NUDT2) | NP_671701.1:p.Glu137del | |
| NM_147173.2:c.410_412del (NUDT2) | NP_671702.1:p.Glu137del | |
| XM_011517862.1:c.-197-11757_-197-11755del (KIF24) | XP_011516164.1:n.-197-11757_-197-11755del | |
| XM_024447528.1:c.410_412del (NUDT2) | XP_024303296.1:p.Glu137del | |
| NM_001161.5:c.410_412del (NUDT2) MANE Select | NP_001152.1:p.Glu137del | |
| NM_147172.3:c.410_412del (NUDT2) | NP_671701.1:p.Glu137del | |
| NM_147173.3:c.410_412del (NUDT2) | NP_671702.1:p.Glu137del | |
| NM_001244390.2:c.410_412del (NUDT2) | NP_001231319.1:p.Glu137del |