Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.100539905_100539906delinsGC , CM000663.2:g.100539905_100539906delinsGC | GRCh38 |
| NC_000001.10:g.101005461_101005462delinsGC , CM000663.1:g.101005461_101005462delinsGC | GRCh37 |
| NC_000001.9:g.100778049_100778050delinsGC | NCBI36 |
| NG_053134.1:g.6734_6735delinsGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315033.5:c.939_940delinsGC MANE Select | ENSP00000314223.4:p.Val313= | |
| ENST00000315033.4:c.939_940delinsGC | ENSP00000314223.4:p.Val313= | |
| NM_022049.2:c.939_940delinsGC | NP_071332.2:p.Val313= | |
| NM_022049.3:c.939_940delinsGC MANE Select | NP_071332.2:p.Val313= |