Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.41756568_41756569insTGTCCCGATGGACGATGCCGGCCCGGTGAGC , CM000683.2:g.41756568_41756569insTGTCCCGATGGACGATGCCGGCCCGGTGAGC | GRCh38 |
| NC_000021.8:g.43176728_43176729insTGTCCCGATGGACGATGCCGGCCCGGTGAGC , CM000683.1:g.43176728_43176729insTGTCCCGATGGACGATGCCGGCCCGGTGAGC | GRCh37 |
| NC_000021.7:g.42049797_42049798insTGTCCCGATGGACGATGCCGGCCCGGTGAGC | NCBI36 |
| NG_032113.1:g.15521_15522insGCTCACCGGGCCGGCATCGTCCATCGGGACA | |
| NG_032113.2:g.15521_15522insGCTCACCGGGCCGGCATCGTCCATCGGGACA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332512.8:c.430_431insGCTCACCGGGCCGGCATCGTCCATCGGGACA MANE Select | ENSP00000332454.3:p.Leu144ArgfsTer28 | |
| ENST00000332512.7:c.430_431insGCTCACCGGGCCGGCATCGTCCATCGGGACA | ENSP00000332454.3:p.Leu144ArgfsTer28 | |
| ENST00000352483.3:c.430_431insGCTCACCGGGCCGGCATCGTCCATCGGGACA | ENSP00000330161.2:p.Leu144ArgfsTer28 | |
| NM_020639.2:c.430_431insGCTCACCGGGCCGGCATCGTCCATCGGGACA | NP_065690.2:p.Leu144ArgfsTer28 | |
| NM_020639.3:c.430_431insGCTCACCGGGCCGGCATCGTCCATCGGGACA MANE Select | NP_065690.2:p.Leu144ArgfsTer28 |