Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.157471689del , CM000667.2:g.157471689del | GRCh38 |
| NC_000005.9:g.156898697del , CM000667.1:g.156898697del | GRCh37 |
| NC_000005.8:g.156831275del | NCBI36 |
| NG_016626.1:g.16671del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311946.8:c.458del (NIPAL4) MANE Select | ENSP00000311687.8:p.Ser153IlefsTer2 | |
| ENST00000435489.7:c.401del (NIPAL4) | ENSP00000406456.3:p.Ser134IlefsTer2 | |
| ENST00000311946.7:c.644del (NIPAL4) | ENSP00000311687.7:p.Ser215IlefsTer2 | |
| ENST00000435489.6:c.587del (NIPAL4) | ENSP00000406456.2:p.Ser196IlefsTer2 | |
| ENST00000517951.5:c.*1741+16576del (ADAM19) | ENSP00000428376.1:n.*1741+16576del | |
| ENST00000519150.1:c.556del (NIPAL4) | ENSP00000430810.1:n.556del | |
| NM_001099287.1:c.644del (NIPAL4) | NP_001092757.1:p.Ser215IlefsTer2 | |
| NM_001172292.1:c.587del (NIPAL4) | NP_001165763.1:p.Ser196IlefsTer2 | |
| XM_011534552.1:c.149del (NIPAL4) | XP_011532854.1:p.Ser50IlefsTer2 | |
| XM_024446043.1:c.-56del (NIPAL4) | XP_024301811.1:n.-56del | |
| NM_001099287.2:c.458del (NIPAL4) MANE Select | NP_001092757.2:p.Ser153IlefsTer2 |