Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94078677_94078678delinsAC , CM000663.2:g.94078677_94078678delinsAC | GRCh38 |
| NC_000001.10:g.94544233_94544234delinsAC , CM000663.1:g.94544233_94544234delinsAC | GRCh37 |
| NC_000001.9:g.94316821_94316822delinsAC | NCBI36 |
| NG_009073.1:g.47472_47473delinsGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.1268_1269delinsGT MANE Select | ENSP00000359245.3:p.His423Arg | |
| ENST00000649773.1:c.1268_1269delinsGT | ENSP00000496882.1:p.His423Arg | |
| ENST00000370225.3:c.1268_1269delinsGT | ENSP00000359245.3:p.His423Arg | |
| NM_000350.2:c.1268_1269delinsGT | NP_000341.2:p.His423Arg | |
| NM_000350.3:c.1268_1269delinsGT MANE Select | NP_000341.2:p.His423Arg |