Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94041229_94041230delinsTC , CM000663.2:g.94041229_94041230delinsTC | GRCh38 |
| NC_000001.10:g.94506785_94506786delinsTC , CM000663.1:g.94506785_94506786delinsTC | GRCh37 |
| NC_000001.9:g.94279373_94279374delinsTC | NCBI36 |
| NG_009073.1:g.84920_84921delinsGA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370225.4:c.3501_3502delinsGA MANE Select | ENSP00000359245.3:p.Gln1167= | |
| ENST00000370225.3:c.3501_3502delinsGA | ENSP00000359245.3:p.Gln1167= | |
| ENST00000536513.5:c.-64-1141_-64-1140delinsGA | ENSP00000439707.2:n.-64-1141_-64-1140deli... | |
| NM_000350.2:c.3501_3502delinsGA | NP_000341.2:p.Gln1167= | |
| NM_000350.3:c.3501_3502delinsGA MANE Select | NP_000341.2:p.Gln1167= |