Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.639980_639981insG , CM000673.2:g.639980_639981insG | GRCh38 |
| NC_000011.9:g.639980_639981insG , CM000673.1:g.639980_639981insG | GRCh37 |
| NC_000011.8:g.629980_629981insG | NCBI36 |
| NG_021241.1:g.7676_7677insG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000176183.6:c.731_732insG MANE Select | ENSP00000176183.5:p.Ser245PhefsTer? | |
| ENST00000176183.5:c.731_732insG | ENSP00000176183.5:p.Ser245PhefsTer? | |
| NM_000797.3:c.731_732insG | NP_000788.2:p.Ser245PhefsTer? | |
| NM_000797.4:c.731_732insG MANE Select | NP_000788.2:p.Ser245PhefsTer? |