ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.93600400_93600425del , CM000672.2:g.93600400_93600425del | GRCh38 |
| NC_000010.10:g.95360157_95360182del , CM000672.1:g.95360157_95360182del | GRCh37 |
| NC_000010.9:g.95350147_95350172del | NCBI36 |
| NG_009104.1:g.5813_5838del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371464.8:c.324_349del (RBP4) MANE Select | ENSP00000360519.3:p.Tyr108Ter | |
| ENST00000371464.7:c.324_349del (RBP4) | ENSP00000360519.3:p.Tyr108Ter | |
| ENST00000371467.5:c.324_349del (RBP4) | ENSP00000360522.1:p.Tyr108Ter | |
| ENST00000371469.2:c.318_343del (RBP4) | ENSP00000360524.2:p.Tyr106Ter | |
| ENST00000604414.1:c.697-3674_697-3649del (FFAR4) | ENSP00000474477.1:n.697-3674_697-3649del | |
| ENST00000615669.4:c.318_343del (RBP4) | ENSP00000480654.1:p.Tyr106Ter | |
| ENST00000629763.2:c.318_343del (RBP4) | ENSP00000487033.1:p.Tyr106Ter | |
| NM_006744.3:c.324_349del (RBP4) | NP_006735.2:p.Tyr108Ter | |
| NM_001323517.1:c.324_349del (RBP4) | NP_001310446.1:p.Tyr108Ter | |
| NM_001323518.1:c.318_343del (RBP4) | NP_001310447.1:p.Tyr106Ter | |
| NM_006744.4:c.324_349del (RBP4) MANE Select | NP_006735.2:p.Tyr108Ter | |
| NM_001323518.2:c.318_343del (RBP4) | NP_001310447.1:p.Tyr106Ter |