Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41583378_41583379insCTG , CM000679.2:g.41583378_41583379insCTG | GRCh38 |
| NC_000017.10:g.39739630_39739631insCTG , CM000679.1:g.39739630_39739631insCTG | GRCh37 |
| NC_000017.9:g.36993156_36993157insCTG | NCBI36 |
| NG_008624.1:g.8517_8518insCAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.1130_1131insCAG MANE Select | ENSP00000167586.6:p.Ile377_Gly378insSer | |
| ENST00000167586.6:c.1130_1131insCAG | ENSP00000167586.6:p.Ile377_Gly378insSer | |
| ENST00000441550.2:n.77_78insCAG | ||
| ENST00000476662.1:n.580_581insCAG | ||
| NM_000526.4:c.1130_1131insCAG | NP_000517.2:p.Ile377_Gly378insSer | |
| NM_000526.5:c.1130_1131insCAG MANE Select | NP_000517.3:p.Ile377_Gly378insSer |