Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.100539685_100539688delinsGCGC , CM000663.2:g.100539685_100539688delinsGCGC | GRCh38 |
| NC_000001.10:g.101005241_101005244delinsGCGC , CM000663.1:g.101005241_101005244delinsGCGC | GRCh37 |
| NC_000001.9:g.100777829_100777832delinsGCGC | NCBI36 |
| NG_053134.1:g.6514_6517delinsGCGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315033.5:c.719_722delinsGCGC MANE Select | ENSP00000314223.4:p.Cys240= | |
| ENST00000315033.4:c.719_722delinsGCGC | ENSP00000314223.4:p.Cys240= | |
| NM_022049.2:c.719_722delinsGCGC | NP_071332.2:p.Cys240= | |
| NM_022049.3:c.719_722delinsGCGC MANE Select | NP_071332.2:p.Cys240= |