Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96115228_96115229insTTCCTCCTC , CM000664.2:g.96115228_96115229insTTCCTCCTC | GRCh38 |
| NC_000002.11:g.96780976_96780977insTTCCTCCTC , CM000664.1:g.96780976_96780977insTTCCTCCTC | GRCh37 |
| NC_000002.10:g.96144703_96144704insTTCCTCCTC | NCBI36 |
| NG_032950.1:g.5923_5924insGGAGGAAGA |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000682.7:c.923_924insGGAGGAAGA MANE Select | NP_000673.2:p.Glu308_Glu309insGluGluGlu |
| ENST00000620793.2:c.923_924insGGAGGAAGA MANE Select | ENSP00000480573.1:p.Glu308_Glu309insGluGluGlu |
| NM_000682.6:c.923_924insGGAGGAAGA | NP_000673.2:p.Glu308_Glu309insGluGluGlu |
| ENST00000620793.1:c.923_924insGGAGGAAGA | ENSP00000480573.1:p.Glu308_Glu309insGluGluGlu |