Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68429937_68429938insACG , CM000663.2:g.68429937_68429938insACG | GRCh38 |
| NC_000001.10:g.68895620_68895621insACG , CM000663.1:g.68895620_68895621insACG | GRCh37 |
| NC_000001.9:g.68668208_68668209insACG | NCBI36 |
| NG_008472.1:g.25022_25023insCGT | |
| NG_008472.2:g.25022_25023insCGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.1451-11_1451-10insCGT MANE Select | ENSP00000262340.5:n.1451-11_1451-10insCGT | |
| ENST00000262340.5:c.1451-11_1451-10insCGT | ENSP00000262340.5:n.1451-11_1451-10insCGT | |
| NM_000329.2:c.1451-11_1451-10insCGT | NP_000320.1:n.1451-11_1451-10insCGT | |
| XM_017002027.1:c.1175-11_1175-10insCGT | XP_016857516.1:n.1175-11_1175-10insCGT | |
| NM_000329.3:c.1451-11_1451-10insCGT MANE Select | NP_000320.1:n.1451-11_1451-10insCGT |