Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10658497_10658498delinsTC , CM000682.2:g.10658497_10658498delinsTC | GRCh38 |
| NC_000020.10:g.10639145_10639146delinsTC , CM000682.1:g.10639145_10639146delinsTC | GRCh37 |
| NC_000020.9:g.10587145_10587146delinsTC | NCBI36 |
| NG_007496.1:g.20549_20550delinsGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.664_665delinsGA MANE Select | ENSP00000254958.4:p.Glu222= | |
| ENST00000254958.9:c.664_665delinsGA | ENSP00000254958.4:p.Glu222= | |
| ENST00000423891.6:n.530_531delinsGA | ||
| NM_000214.2:c.664_665delinsGA | NP_000205.1:p.Glu222= | |
| NM_000214.3:c.664_665delinsGA MANE Select | NP_000205.1:p.Glu222= |