Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96293175_96293176insCAG , CM000664.2:g.96293175_96293176insCAG | GRCh38 |
| NC_000002.11:g.96958913_96958914insCAG , CM000664.1:g.96958913_96958914insCAG | GRCh37 |
| NC_000002.10:g.96322640_96322641insCAG | NCBI36 |
| NG_016973.1:g.17384_17385insCTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323853.10:c.2037-81_2037-80insCTG MANE Select | ENSP00000317123.5:n.2037-81_2037-80insCTG | |
| ENST00000652267.1:c.2037-81_2037-80insCTG | ENSP00000498933.1:n.2037-81_2037-80insCTG | |
| ENST00000323853.9:c.2037-81_2037-80insCTG | ENSP00000317123.5:n.2037-81_2037-80insCTG | |
| NM_014014.4:c.2037-81_2037-80insCTG | NP_054733.2:n.2037-81_2037-80insCTG | |
| NM_014014.5:c.2037-81_2037-80insCTG MANE Select | NP_054733.2:n.2037-81_2037-80insCTG |