Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.176984_176985insGGAGCC , CM000678.2:g.176984_176985insGGAGCC | GRCh38 |
| NC_000016.9:g.226983_226984insGGAGCC , CM000678.1:g.226983_226984insGGAGCC | GRCh37 |
| NC_000016.8:g.166983_166984insGGAGCC | NCBI36 |
| NG_000006.1:g.37847_37848insGGAGCC | |
| NG_059186.1:g.5334_5335insGGAGCC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320868.9:c.151_152insGGAGCC MANE Select | ENSP00000322421.5:p.Ser50_His51insArgSer | |
| ENST00000397797.1:c.55_56insGGAGCC | ENSP00000380899.1:p.Ser18_His19insArgSer | |
| ENST00000472694.1:n.287_288insGGAGCC | ||
| ENST00000487791.1:n.120_121insGGAGCC | ||
| NM_000558.4:c.151_152insGGAGCC | NP_000549.1:p.Ser50_His51insArgSer | |
| NM_000558.5:c.151_152insGGAGCC MANE Select | NP_000549.1:p.Ser50_His51insArgSer |