Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67436626_67436627insGGC , CM000678.2:g.67436626_67436627insGGC | GRCh38 |
| NC_000016.9:g.67470529_67470530insGGC , CM000678.1:g.67470529_67470530insGGC | GRCh37 |
| NC_000016.8:g.66028030_66028031insGGC | NCBI36 |
| NG_011482.1:g.49562_49563insCGC | |
| NG_016549.1:g.10494_10495insGGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326152.6:c.841_842insGGC MANE Select | ENSP00000316786.5:p.Lys280_Gln281insArg | |
| ENST00000326152.5:c.841_842insGGC | ENSP00000316786.5:p.Lys280_Gln281insArg | |
| NM_000196.3:c.841_842insGGC | NP_000187.3:p.Lys280_Gln281insArg | |
| NM_000196.4:c.841_842insGGC MANE Select | NP_000187.3:p.Lys280_Gln281insArg |