Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.77268550_77268551insACC , CM000680.2:g.77268550_77268551insACC | GRCh38 |
| NC_000018.9:g.74980506_74980507insACC , CM000680.1:g.74980506_74980507insACC | GRCh37 |
| NC_000018.8:g.73109494_73109495insACC | NCBI36 |
| NG_009223.1:g.23499_23500insACC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299727.5:c.733-35_733-34insACC MANE Select | ENSP00000299727.3:n.733-35_733-34insACC | |
| ENST00000299727.4:c.733-35_733-34insACC | ENSP00000299727.3:n.733-35_733-34insACC | |
| NM_001480.3:c.733-35_733-34insACC | NP_001471.2:n.733-35_733-34insACC | |
| NM_001480.4:c.733-35_733-34insACC MANE Select | NP_001471.2:n.733-35_733-34insACC |