Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19955989_19955990insG , CM000670.2:g.19955989_19955990insG | GRCh38 |
| NC_000008.10:g.19813500_19813501insG , CM000670.1:g.19813500_19813501insG | GRCh37 |
| NC_000008.9:g.19857780_19857781insG | NCBI36 |
| NG_008855.1:g.21919_21920insG | |
| NG_008855.2:g.59273_59274insG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.924_925insG MANE Select | ENSP00000497642.1:p.Arg309AlafsTer8 | |
| ENST00000311322.8:c.924_925insG | ENSP00000309757.6:p.Arg309AlafsTer8 | |
| NM_000237.2:c.924_925insG | NP_000228.1:p.Arg309AlafsTer8 | |
| NM_000237.3:c.924_925insG MANE Select | NP_000228.1:p.Arg309AlafsTer8 |