Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.41745939_41745942delinsGCAG , CM000666.2:g.41745939_41745942delinsGCAG | GRCh38 |
| NC_000004.11:g.41747956_41747959delinsGCAG , CM000666.1:g.41747956_41747959delinsGCAG | GRCh37 |
| NC_000004.10:g.41442713_41442716delinsGCAG | NCBI36 |
| NG_008243.1:g.8029_8032delinsCTGC , LRG_513:g.8029_8032delinsCTGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226382.4:c.810_813delinsCTGC MANE Select | ENSP00000226382.2:p.Gln271Cys | |
| ENST00000226382.3:c.810_813delinsCTGC | ENSP00000226382.2:p.Gln271Cys | |
| NM_003924.3:c.810_813delinsCTGC , LRG_513t1:c.810_813delinsCTGC | NP_003915.2:p.Gln271Cys | |
| NM_003924.4:c.810_813delinsCTGC MANE Select | NP_003915.2:p.Gln271Cys |