Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.94769874_94769875insACC , CM000676.2:g.94769874_94769875insACC | GRCh38 |
| NC_000014.8:g.95236211_95236212insACC , CM000676.1:g.95236211_95236212insACC | GRCh37 |
| NC_000014.7:g.94305964_94305965insACC | NCBI36 |
| NG_034111.1:g.5290_5291insTGG |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_173849.3:c.143_144insTGG MANE Select | NP_776248.1:p.Gly48_Gly49insGly |
| ENST00000238558.5:c.143_144insTGG MANE Select | ENSP00000238558.3:p.Gly48_Gly49insGly |
| NM_173849.2:c.143_144insTGG | NP_776248.1:p.Gly48_Gly49insGly |
| ENST00000238558.4:c.143_144insTGG | ENSP00000238558.3:p.Gly48_Gly49insGly |