Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94046945_94046946delinsGT , CM000663.2:g.94046945_94046946delinsGT | GRCh38 |
| NC_000001.10:g.94512501_94512502delinsGT , CM000663.1:g.94512501_94512502delinsGT | GRCh37 |
| NC_000001.9:g.94285089_94285090delinsGT | NCBI36 |
| NG_009073.1:g.79204_79205delinsAC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370225.4:c.2891_2892delinsAC MANE Select | ENSP00000359245.3:p.His964= | |
| ENST00000649773.1:c.2669_2670delinsAC | ENSP00000496882.1:p.His890= | |
| ENST00000370225.3:c.2891_2892delinsAC | ENSP00000359245.3:p.His964= | |
| ENST00000536513.5:c.-64-6857_-64-6856delinsAC | ENSP00000439707.2:n.-64-6857_-64-6856deli... | |
| NM_000350.2:c.2891_2892delinsAC | NP_000341.2:p.His964= | |
| NM_000350.3:c.2891_2892delinsAC MANE Select | NP_000341.2:p.His964= |