Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25010176_25010177delinsAC , CM000685.2:g.25010176_25010177delinsAC | GRCh38 |
| NC_000023.10:g.25028293_25028294delinsAC , CM000685.1:g.25028293_25028294delinsAC | GRCh37 |
| NC_000023.9:g.24938214_24938215delinsAC | NCBI36 |
| NG_008281.1:g.10772_10773delinsGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.1119+83_1119+84delinsGT MANE Select | ENSP00000368332.4:n.1119+83_1119+84delinsGT | |
| ENST00000379044.4:c.1119+83_1119+84delinsGT | ENSP00000368332.4:n.1119+83_1119+84delinsGT | |
| NM_139058.2:c.1119+83_1119+84delinsGT | NP_620689.1:n.1119+83_1119+84delinsGT | |
| NM_139058.3:c.1119+83_1119+84delinsGT MANE Select | NP_620689.1:n.1119+83_1119+84delinsGT |