Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24255991delinsGT , CM000676.2:g.24255991delinsGT | GRCh38 |
| NC_000014.8:g.24725197delinsGT , CM000676.1:g.24725197delinsGT | GRCh37 |
| NC_000014.7:g.23795037delinsGT | NCBI36 |
| NG_007150.1:g.12176delinsAC | |
| NG_007150.2:g.12176delinsAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000206765.11:c.1489delinsAC MANE Select | ENSP00000206765.6:p.Glu497ThrfsTer4 | |
| ENST00000206765.10:c.1489delinsAC | ENSP00000206765.6:p.Glu497ThrfsTer4 | |
| ENST00000544573.5:c.163delinsAC | ENSP00000439446.1:p.Glu55ThrfsTer4 | |
| ENST00000559136.1:c.562delinsAC | ENSP00000453337.1:p.Glu188ThrfsTer4 | |
| NM_000359.2:c.1489delinsAC | NP_000350.1:p.Glu497ThrfsTer4 | |
| NM_000359.3:c.1489delinsAC MANE Select | NP_000350.1:p.Glu497ThrfsTer4 |