Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25010167_25010168insGCC , CM000685.2:g.25010167_25010168insGCC | GRCh38 |
| NC_000023.10:g.25028284_25028285insGCC , CM000685.1:g.25028284_25028285insGCC | GRCh37 |
| NC_000023.9:g.24938205_24938206insGCC | NCBI36 |
| NG_008281.1:g.10781_10782insGGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.1119+92_1119+93insGGC MANE Select | ENSP00000368332.4:n.1119+92_1119+93insGGC | |
| ENST00000379044.4:c.1119+92_1119+93insGGC | ENSP00000368332.4:n.1119+92_1119+93insGGC | |
| NM_139058.2:c.1119+92_1119+93insGGC | NP_620689.1:n.1119+92_1119+93insGGC | |
| NM_139058.3:c.1119+92_1119+93insGGC MANE Select | NP_620689.1:n.1119+92_1119+93insGGC |