Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129530568_129530569insC , CM000665.2:g.129530568_129530569insC | GRCh38 |
| NC_000003.11:g.129249411_129249412insC , CM000665.1:g.129249411_129249412insC | GRCh37 |
| NC_000003.10:g.130732101_130732102insC | NCBI36 |
| NG_009115.1:g.6930_6931insC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296271.4:c.362-308_362-307insC MANE Select | ENSP00000296271.3:n.362-308_362-307insC | |
| ENST00000296271.3:c.362-308_362-307insC | ENSP00000296271.3:n.362-308_362-307insC | |
| NM_000539.3:c.362-308_362-307insC MANE Select | NP_000530.1:n.362-308_362-307insC |