Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.77268565_77268566insGCC , CM000680.2:g.77268565_77268566insGCC | GRCh38 |
| NC_000018.9:g.74980521_74980522insGCC , CM000680.1:g.74980521_74980522insGCC | GRCh37 |
| NC_000018.8:g.73109509_73109510insGCC | NCBI36 |
| NG_009223.1:g.23514_23515insGCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299727.5:c.733-20_733-19insGCC MANE Select | ENSP00000299727.3:n.733-20_733-19insGCC | |
| ENST00000299727.4:c.733-20_733-19insGCC | ENSP00000299727.3:n.733-20_733-19insGCC | |
| NM_001480.3:c.733-20_733-19insGCC | NP_001471.2:n.733-20_733-19insGCC | |
| NM_001480.4:c.733-20_733-19insGCC MANE Select | NP_001471.2:n.733-20_733-19insGCC |