Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48528350_48528351insA , CM000685.2:g.48528350_48528351insA | GRCh38 |
| NC_000023.10:g.48386738_48386739insA , CM000685.1:g.48386738_48386739insA | GRCh37 |
| NC_000023.9:g.48271682_48271683insA | NCBI36 |
| NG_007452.1:g.11575_11576insA |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006579.3:c.586_587insA MANE Select | NP_006570.1:p.Trp196Ter |
| ENST00000495186.6:c.586_587insA MANE Select | ENSP00000417052.1:p.Trp196Ter |
| NM_006579.2:c.586_587insA | NP_006570.1:p.Trp196Ter |
| ENST00000276096.10:n.544_545insA | |
| ENST00000495186.5:c.586_587insA | ENSP00000417052.1:p.Trp196Ter |
| ENST00000498425.1:n.707_708insA | |
| ENST00000651615.1:c.469+1065_469+1066insA | ENSP00000498524.1:n.469+1065_469+1066insA |